Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region

Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Meth...
Ausführliche Beschreibung

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Autor*in:	Zhuang, Jianlong [verfasserIn] Wang, Junyu [verfasserIn] Huang, Nan [verfasserIn] Zheng, Yu [verfasserIn] Xu, Liangpu [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2024

Schlagwörter:	Thalassemia Hb variants Third-generation sequencing Sanger sequencing

Anmerkung:	© The Author(s) 2024

Übergeordnetes Werk:	Enthalten in: BMC medical genomics - BioMed Central, 2008, 17(2024), 1 vom: 01. Okt.
Übergeordnetes Werk:	volume:17 ; year:2024 ; number:1 ; day:01 ; month:10

Links:	Volltext

DOI / URN:	10.1186/s12920-024-02014-2

Katalog-ID:	SPR057625794

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520			\|a Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing.
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allfields	10.1186/s12920-024-02014-2 doi (DE-627)SPR057625794 (SPR)s12920-024-02014-2-e DE-627 ger DE-627 rakwb eng 610 VZ Zhuang, Jianlong verfasserin aut Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Wang, Junyu verfasserin aut Huang, Nan verfasserin aut Zheng, Yu verfasserin aut Xu, Liangpu verfasserin aut Enthalten in BMC medical genomics BioMed Central, 2008 17(2024), 1 vom: 01. Okt. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:17 year:2024 number:1 day:01 month:10 https://dx.doi.org/10.1186/s12920-024-02014-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2024 1 01 10
spelling	10.1186/s12920-024-02014-2 doi (DE-627)SPR057625794 (SPR)s12920-024-02014-2-e DE-627 ger DE-627 rakwb eng 610 VZ Zhuang, Jianlong verfasserin aut Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Wang, Junyu verfasserin aut Huang, Nan verfasserin aut Zheng, Yu verfasserin aut Xu, Liangpu verfasserin aut Enthalten in BMC medical genomics BioMed Central, 2008 17(2024), 1 vom: 01. Okt. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:17 year:2024 number:1 day:01 month:10 https://dx.doi.org/10.1186/s12920-024-02014-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2024 1 01 10
allfields_unstemmed	10.1186/s12920-024-02014-2 doi (DE-627)SPR057625794 (SPR)s12920-024-02014-2-e DE-627 ger DE-627 rakwb eng 610 VZ Zhuang, Jianlong verfasserin aut Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Wang, Junyu verfasserin aut Huang, Nan verfasserin aut Zheng, Yu verfasserin aut Xu, Liangpu verfasserin aut Enthalten in BMC medical genomics BioMed Central, 2008 17(2024), 1 vom: 01. Okt. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:17 year:2024 number:1 day:01 month:10 https://dx.doi.org/10.1186/s12920-024-02014-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2024 1 01 10
allfieldsGer	10.1186/s12920-024-02014-2 doi (DE-627)SPR057625794 (SPR)s12920-024-02014-2-e DE-627 ger DE-627 rakwb eng 610 VZ Zhuang, Jianlong verfasserin aut Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Wang, Junyu verfasserin aut Huang, Nan verfasserin aut Zheng, Yu verfasserin aut Xu, Liangpu verfasserin aut Enthalten in BMC medical genomics BioMed Central, 2008 17(2024), 1 vom: 01. Okt. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:17 year:2024 number:1 day:01 month:10 https://dx.doi.org/10.1186/s12920-024-02014-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2024 1 01 10
allfieldsSound	10.1186/s12920-024-02014-2 doi (DE-627)SPR057625794 (SPR)s12920-024-02014-2-e DE-627 ger DE-627 rakwb eng 610 VZ Zhuang, Jianlong verfasserin aut Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Wang, Junyu verfasserin aut Huang, Nan verfasserin aut Zheng, Yu verfasserin aut Xu, Liangpu verfasserin aut Enthalten in BMC medical genomics BioMed Central, 2008 17(2024), 1 vom: 01. Okt. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:17 year:2024 number:1 day:01 month:10 https://dx.doi.org/10.1186/s12920-024-02014-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_72 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2024 1 01 10
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author	Zhuang, Jianlong
spellingShingle	Zhuang, Jianlong ddc 610 misc Thalassemia misc Hb variants misc Third-generation sequencing misc Sanger sequencing Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
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topic_title	610 VZ Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region Thalassemia (dpeaa)DE-He213 Hb variants (dpeaa)DE-He213 Third-generation sequencing (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213
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title	Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
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title_full	Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
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title_sort	application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a southeast chinese region
title_auth	Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
abstract	Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. © The Author(s) 2024
abstractGer	Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. © The Author(s) 2024
abstract_unstemmed	Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. Conclusion Our findings may provide valuable data for enriching the spectrum of thalassemia and highlight the clinical application value of TGS-based α- and β-globin genetic testing. © The Author(s) 2024
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title_short	Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
url	https://dx.doi.org/10.1186/s12920-024-02014-2
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author2	Wang, Junyu Huang, Nan Zheng, Yu Xu, Liangpu
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The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Methods Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR. Results Of the 6,174 included subjects, 2,390 (38.71%) were identified as α- and β-globin gene mutation carriers, including 40 carrying rare or novel α- and β-thalassemia mutations. The $ α^{CD30(−GAG)} $α and Hb Lepore-Boston-Washington were first reported in Fujian province Southeast China. Moreover, the $ β^{CD15(TGG> TAG)} $, $ β^{IVS−II−761} $, $ β^{0} $-Filipino(~ 45 kb deletion), and Hb Lepore-Quanzhou were first identified in the Chinese population. In addition, 35 cases of Hb variants were detected, the rare Hb variants of Hb Jilin and Hb Beijing were first reported in Fujian province of China. Among them, one case with compound $ ααα^{anti3.7} $ and Hb G-Honolulu variants was identified in this study. 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Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region

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