Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo sele...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Xu, Jiawei [verfasserIn] |
|---|
| Format: |
Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Proceedings of the National Academy of Sciences of the United States of America - Washington, DC : NAS, 1877, 114(2017), 41, Seite E8695 |
|---|---|
| Übergeordnetes Werk: |
volume:114 ; year:2017 ; number:41 ; pages:E8695 |
| Links: |
|---|
| DOI / URN: |
10.1073/pnas.1715053114 |
|---|
| Katalog-ID: |
OLC1999833295 |
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| 245 | 1 | 0 | |a Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos |
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| 520 | |a Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. | ||
| 650 | 4 | |a Allelomorphism | |
| 650 | 4 | |a Diagnosis | |
| 650 | 4 | |a Aneuploidy | |
| 650 | 4 | |a Blastocyst | |
| 650 | 4 | |a Health aspects | |
| 650 | 4 | |a Methods | |
| 650 | 4 | |a Chromosome abnormalities | |
| 650 | 4 | |a Genetic screening | |
| 650 | 4 | |a Genetic aspects | |
| 650 | 4 | |a Amniotic fluid | |
| 650 | 4 | |a Screening | |
| 650 | 4 | |a Infertility | |
| 650 | 4 | |a Carriers | |
| 650 | 4 | |a Ploidy | |
| 650 | 4 | |a In vitro fertilization | |
| 650 | 4 | |a Patients | |
| 650 | 4 | |a Auditory defects | |
| 650 | 4 | |a Birth defects | |
| 650 | 4 | |a Alleles | |
| 650 | 4 | |a Chromosomes | |
| 650 | 4 | |a Fertilization | |
| 650 | 4 | |a Genes | |
| 650 | 4 | |a Chromosome translocations | |
| 650 | 4 | |a Congenital defects | |
| 650 | 4 | |a Embryos | |
| 650 | 4 | |a Mapping | |
| 650 | 4 | |a Translocation | |
| 650 | 4 | |a Abnormalities | |
| 650 | 4 | |a Gene mapping | |
| 650 | 4 | |a Genomics | |
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| 700 | 1 | |a Niu, Wenbin |4 oth | |
| 700 | 1 | |a Yang, Qingling |4 oth | |
| 700 | 1 | |a Yao, Guidong |4 oth | |
| 700 | 1 | |a Shi, Senlin |4 oth | |
| 700 | 1 | |a Jin, Haixia |4 oth | |
| 700 | 1 | |a Song, Wenyan |4 oth | |
| 700 | 1 | |a Chen, Lei |4 oth | |
| 700 | 1 | |a Zhang, Xiangyang |4 oth | |
| 700 | 1 | |a Guo, Yihong |4 oth | |
| 700 | 1 | |a Su, Yingchun |4 oth | |
| 700 | 1 | |a Hu, Linli |4 oth | |
| 700 | 1 | |a Zhai, Jun |4 oth | |
| 700 | 1 | |a Zhang, Yile |4 oth | |
| 700 | 1 | |a Dong, Fangli |4 oth | |
| 700 | 1 | |a Gao, Yumei |4 oth | |
| 700 | 1 | |a Li, Wenhui |4 oth | |
| 700 | 1 | |a Bo, Shiping |4 oth | |
| 700 | 1 | |a Hu, Mintao |4 oth | |
| 700 | 1 | |a Ren, Jun |4 oth | |
| 700 | 1 | |a Huang, Lei |4 oth | |
| 700 | 1 | |a Lu, Sijia |4 oth | |
| 700 | 1 | |a Xie, X. Sunney |4 oth | |
| 700 | 1 | |a Sun, Yingpu |4 oth | |
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10.1073/pnas.1715053114 doi PQ20171228 (DE-627)OLC1999833295 (DE-599)GBVOLC1999833295 (PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610 (KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni DE-627 ger DE-627 rakwb eng 500 DE-101 570 AVZ LING fid BIODIV fid Xu, Jiawei verfasserin aut Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos 2017 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics Zhang, Zhen oth Niu, Wenbin oth Yang, Qingling oth Yao, Guidong oth Shi, Senlin oth Jin, Haixia oth Song, Wenyan oth Chen, Lei oth Zhang, Xiangyang oth Guo, Yihong oth Su, Yingchun oth Hu, Linli oth Zhai, Jun oth Zhang, Yile oth Dong, Fangli oth Gao, Yumei oth Li, Wenhui oth Bo, Shiping oth Hu, Mintao oth Ren, Jun oth Huang, Lei oth Lu, Sijia oth Xie, X. Sunney oth Sun, Yingpu oth Enthalten in Proceedings of the National Academy of Sciences of the United States of America Washington, DC : NAS, 1877 114(2017), 41, Seite E8695 (DE-627)129505269 (DE-600)209104-5 (DE-576)014909189 0027-8424 nnns volume:114 year:2017 number:41 pages:E8695 http://dx.doi.org/10.1073/pnas.1715053114 Volltext https://search.proquest.com/docview/1970169725 GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-LING FID-BIODIV SSG-OLC-PHY SSG-OLC-CHE SSG-OLC-MAT SSG-OLC-FOR SSG-OLC-PHA SSG-OLC-DE-84 SSG-OPC-MAT SSG-OPC-FOR GBV_ILN_40 GBV_ILN_59 AR 114 2017 41 E8695 |
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10.1073/pnas.1715053114 doi PQ20171228 (DE-627)OLC1999833295 (DE-599)GBVOLC1999833295 (PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610 (KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni DE-627 ger DE-627 rakwb eng 500 DE-101 570 AVZ LING fid BIODIV fid Xu, Jiawei verfasserin aut Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos 2017 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics Zhang, Zhen oth Niu, Wenbin oth Yang, Qingling oth Yao, Guidong oth Shi, Senlin oth Jin, Haixia oth Song, Wenyan oth Chen, Lei oth Zhang, Xiangyang oth Guo, Yihong oth Su, Yingchun oth Hu, Linli oth Zhai, Jun oth Zhang, Yile oth Dong, Fangli oth Gao, Yumei oth Li, Wenhui oth Bo, Shiping oth Hu, Mintao oth Ren, Jun oth Huang, Lei oth Lu, Sijia oth Xie, X. Sunney oth Sun, Yingpu oth Enthalten in Proceedings of the National Academy of Sciences of the United States of America Washington, DC : NAS, 1877 114(2017), 41, Seite E8695 (DE-627)129505269 (DE-600)209104-5 (DE-576)014909189 0027-8424 nnns volume:114 year:2017 number:41 pages:E8695 http://dx.doi.org/10.1073/pnas.1715053114 Volltext https://search.proquest.com/docview/1970169725 GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-LING FID-BIODIV SSG-OLC-PHY SSG-OLC-CHE SSG-OLC-MAT SSG-OLC-FOR SSG-OLC-PHA SSG-OLC-DE-84 SSG-OPC-MAT SSG-OPC-FOR GBV_ILN_40 GBV_ILN_59 AR 114 2017 41 E8695 |
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10.1073/pnas.1715053114 doi PQ20171228 (DE-627)OLC1999833295 (DE-599)GBVOLC1999833295 (PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610 (KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni DE-627 ger DE-627 rakwb eng 500 DE-101 570 AVZ LING fid BIODIV fid Xu, Jiawei verfasserin aut Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos 2017 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics Zhang, Zhen oth Niu, Wenbin oth Yang, Qingling oth Yao, Guidong oth Shi, Senlin oth Jin, Haixia oth Song, Wenyan oth Chen, Lei oth Zhang, Xiangyang oth Guo, Yihong oth Su, Yingchun oth Hu, Linli oth Zhai, Jun oth Zhang, Yile oth Dong, Fangli oth Gao, Yumei oth Li, Wenhui oth Bo, Shiping oth Hu, Mintao oth Ren, Jun oth Huang, Lei oth Lu, Sijia oth Xie, X. Sunney oth Sun, Yingpu oth Enthalten in Proceedings of the National Academy of Sciences of the United States of America Washington, DC : NAS, 1877 114(2017), 41, Seite E8695 (DE-627)129505269 (DE-600)209104-5 (DE-576)014909189 0027-8424 nnns volume:114 year:2017 number:41 pages:E8695 http://dx.doi.org/10.1073/pnas.1715053114 Volltext https://search.proquest.com/docview/1970169725 GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-LING FID-BIODIV SSG-OLC-PHY SSG-OLC-CHE SSG-OLC-MAT SSG-OLC-FOR SSG-OLC-PHA SSG-OLC-DE-84 SSG-OPC-MAT SSG-OPC-FOR GBV_ILN_40 GBV_ILN_59 AR 114 2017 41 E8695 |
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10.1073/pnas.1715053114 doi PQ20171228 (DE-627)OLC1999833295 (DE-599)GBVOLC1999833295 (PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610 (KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni DE-627 ger DE-627 rakwb eng 500 DE-101 570 AVZ LING fid BIODIV fid Xu, Jiawei verfasserin aut Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos 2017 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics Zhang, Zhen oth Niu, Wenbin oth Yang, Qingling oth Yao, Guidong oth Shi, Senlin oth Jin, Haixia oth Song, Wenyan oth Chen, Lei oth Zhang, Xiangyang oth Guo, Yihong oth Su, Yingchun oth Hu, Linli oth Zhai, Jun oth Zhang, Yile oth Dong, Fangli oth Gao, Yumei oth Li, Wenhui oth Bo, Shiping oth Hu, Mintao oth Ren, Jun oth Huang, Lei oth Lu, Sijia oth Xie, X. Sunney oth Sun, Yingpu oth Enthalten in Proceedings of the National Academy of Sciences of the United States of America Washington, DC : NAS, 1877 114(2017), 41, Seite E8695 (DE-627)129505269 (DE-600)209104-5 (DE-576)014909189 0027-8424 nnns volume:114 year:2017 number:41 pages:E8695 http://dx.doi.org/10.1073/pnas.1715053114 Volltext https://search.proquest.com/docview/1970169725 GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-LING FID-BIODIV SSG-OLC-PHY SSG-OLC-CHE SSG-OLC-MAT SSG-OLC-FOR SSG-OLC-PHA SSG-OLC-DE-84 SSG-OPC-MAT SSG-OPC-FOR GBV_ILN_40 GBV_ILN_59 AR 114 2017 41 E8695 |
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10.1073/pnas.1715053114 doi PQ20171228 (DE-627)OLC1999833295 (DE-599)GBVOLC1999833295 (PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610 (KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni DE-627 ger DE-627 rakwb eng 500 DE-101 570 AVZ LING fid BIODIV fid Xu, Jiawei verfasserin aut Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos 2017 Text txt rdacontent ohne Hilfsmittel zu benutzen n rdamedia Band nc rdacarrier Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics Zhang, Zhen oth Niu, Wenbin oth Yang, Qingling oth Yao, Guidong oth Shi, Senlin oth Jin, Haixia oth Song, Wenyan oth Chen, Lei oth Zhang, Xiangyang oth Guo, Yihong oth Su, Yingchun oth Hu, Linli oth Zhai, Jun oth Zhang, Yile oth Dong, Fangli oth Gao, Yumei oth Li, Wenhui oth Bo, Shiping oth Hu, Mintao oth Ren, Jun oth Huang, Lei oth Lu, Sijia oth Xie, X. Sunney oth Sun, Yingpu oth Enthalten in Proceedings of the National Academy of Sciences of the United States of America Washington, DC : NAS, 1877 114(2017), 41, Seite E8695 (DE-627)129505269 (DE-600)209104-5 (DE-576)014909189 0027-8424 nnns volume:114 year:2017 number:41 pages:E8695 http://dx.doi.org/10.1073/pnas.1715053114 Volltext https://search.proquest.com/docview/1970169725 GBV_USEFLAG_A SYSFLAG_A GBV_OLC FID-LING FID-BIODIV SSG-OLC-PHY SSG-OLC-CHE SSG-OLC-MAT SSG-OLC-FOR SSG-OLC-PHA SSG-OLC-DE-84 SSG-OPC-MAT SSG-OPC-FOR GBV_ILN_40 GBV_ILN_59 AR 114 2017 41 E8695 |
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Allelomorphism Diagnosis Aneuploidy Blastocyst Health aspects Methods Chromosome abnormalities Genetic screening Genetic aspects Amniotic fluid Screening Infertility Carriers Ploidy In vitro fertilization Patients Auditory defects Birth defects Alleles Chromosomes Fertilization Genes Chromosome translocations Congenital defects Embryos Mapping Translocation Abnormalities Gene mapping Genomics |
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Xu, Jiawei @@aut@@ Zhang, Zhen @@oth@@ Niu, Wenbin @@oth@@ Yang, Qingling @@oth@@ Yao, Guidong @@oth@@ Shi, Senlin @@oth@@ Jin, Haixia @@oth@@ Song, Wenyan @@oth@@ Chen, Lei @@oth@@ Zhang, Xiangyang @@oth@@ Guo, Yihong @@oth@@ Su, Yingchun @@oth@@ Hu, Linli @@oth@@ Zhai, Jun @@oth@@ Zhang, Yile @@oth@@ Dong, Fangli @@oth@@ Gao, Yumei @@oth@@ Li, Wenhui @@oth@@ Bo, Shiping @@oth@@ Hu, Mintao @@oth@@ Ren, Jun @@oth@@ Huang, Lei @@oth@@ Lu, Sijia @@oth@@ Xie, X. Sunney @@oth@@ Sun, Yingpu @@oth@@ |
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Xu, Jiawei ddc 500 ddc 570 fid LING fid BIODIV misc Allelomorphism misc Diagnosis misc Aneuploidy misc Blastocyst misc Health aspects misc Methods misc Chromosome abnormalities misc Genetic screening misc Genetic aspects misc Amniotic fluid misc Screening misc Infertility misc Carriers misc Ploidy misc In vitro fertilization misc Patients misc Auditory defects misc Birth defects misc Alleles misc Chromosomes misc Fertilization misc Genes misc Chromosome translocations misc Congenital defects misc Embryos misc Mapping misc Translocation misc Abnormalities misc Gene mapping misc Genomics Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos |
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mapping allele with resolved carrier status of robertsonian and reciprocal translocation in human preimplantation embryos |
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Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos |
| abstract |
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. |
| abstractGer |
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. |
| abstract_unstemmed |
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population. |
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Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos |
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Zhang, Zhen Niu, Wenbin Yang, Qingling Yao, Guidong Shi, Senlin Jin, Haixia Song, Wenyan Chen, Lei Zhang, Xiangyang Guo, Yihong Su, Yingchun Hu, Linli Zhai, Jun Zhang, Yile Dong, Fangli Gao, Yumei Li, Wenhui Bo, Shiping Hu, Mintao Ren, Jun Huang, Lei Lu, Sijia Xie, X. Sunney Sun, Yingpu |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a2200265 4500</leader><controlfield tag="001">OLC1999833295</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230715085152.0</controlfield><controlfield tag="007">tu</controlfield><controlfield tag="008">171228s2017 xx ||||| 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1073/pnas.1715053114</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">PQ20171228</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)OLC1999833295</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)GBVOLC1999833295</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(PRQ)g1160-112b9071571898a78063844f5a008e4ef7ed94231cbc720818341c286981ae610</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(KEY)0583363920170000114004108695mappingallelewithresolvedcarrierstatusofrobertsoni</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">500</subfield><subfield code="q">DE-101</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">570</subfield><subfield code="q">AVZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">LING</subfield><subfield code="2">fid</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">BIODIV</subfield><subfield code="2">fid</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Xu, Jiawei</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">ohne Hilfsmittel zu benutzen</subfield><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Band</subfield><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Allelomorphism</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Diagnosis</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Aneuploidy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Blastocyst</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Health aspects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Methods</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Chromosome abnormalities</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic screening</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic aspects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Amniotic fluid</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Screening</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Infertility</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Carriers</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Ploidy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">In vitro fertilization</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Patients</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Auditory defects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Birth defects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Alleles</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Chromosomes</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Fertilization</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genes</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Chromosome translocations</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Congenital defects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Embryos</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mapping</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Translocation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Abnormalities</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Gene mapping</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genomics</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zhang, Zhen</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Niu, Wenbin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yang, Qingling</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yao, Guidong</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Shi, Senlin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Jin, Haixia</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Song, Wenyan</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chen, Lei</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zhang, Xiangyang</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Guo, Yihong</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Su, Yingchun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hu, Linli</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zhai, Jun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zhang, Yile</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Dong, Fangli</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Gao, Yumei</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" 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Sunney</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sun, Yingpu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Proceedings of the National Academy of Sciences of the United States of America</subfield><subfield code="d">Washington, DC : NAS, 1877</subfield><subfield code="g">114(2017), 41, Seite E8695</subfield><subfield code="w">(DE-627)129505269</subfield><subfield code="w">(DE-600)209104-5</subfield><subfield code="w">(DE-576)014909189</subfield><subfield code="x">0027-8424</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:114</subfield><subfield code="g">year:2017</subfield><subfield code="g">number:41</subfield><subfield code="g">pages:E8695</subfield></datafield><datafield tag="856" ind1="4" ind2="1"><subfield code="u">http://dx.doi.org/10.1073/pnas.1715053114</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://search.proquest.com/docview/1970169725</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_OLC</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">FID-LING</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">FID-BIODIV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHY</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-CHE</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-MAT</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-FOR</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-DE-84</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OPC-MAT</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OPC-FOR</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_59</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">114</subfield><subfield code="j">2017</subfield><subfield code="e">41</subfield><subfield code="h">E8695</subfield></datafield></record></collection>
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