Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy.
Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mut...
Ausführliche Beschreibung
Autor*in: |
Areen T. Ramadhan Al-Hadithi [verfasserIn] Ban A. Abdulmajeed [verfasserIn] Hula R. Abdulrasool Shareef [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2014 |
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Schlagwörter: |
Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Dystrophin gene, Multiplex PCR |
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Übergeordnetes Werk: |
In: مجلة كلية الطب - Faculty of Medicine University of Baghdad, 2019, 56(2014), 2 |
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Übergeordnetes Werk: |
volume:56 ; year:2014 ; number:2 |
Links: |
Link aufrufen |
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DOI / URN: |
10.32007/med.1936/jfacmedbagdad.v56i2.11 |
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Katalog-ID: |
DOAJ041978595 |
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520 | |a Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. | ||
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10.32007/med.1936/jfacmedbagdad.v56i2.11 doi (DE-627)DOAJ041978595 (DE-599)DOAJa2acc32f44b34ec3bce50a1a4d86f036 DE-627 ger DE-627 rakwb eng R5-920 Areen T. Ramadhan Al-Hadithi verfasserin aut Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Dystrophin gene, Multiplex PCR Medicine R Medicine (General) Ban A. Abdulmajeed verfasserin aut Hula R. Abdulrasool Shareef verfasserin aut In مجلة كلية الطب Faculty of Medicine University of Baghdad, 2019 56(2014), 2 (DE-627)756303664 (DE-600)2726942-5 24108057 nnns volume:56 year:2014 number:2 https://doi.org/10.32007/med.1936/jfacmedbagdad.v56i2.11 kostenfrei https://doaj.org/article/a2acc32f44b34ec3bce50a1a4d86f036 kostenfrei http://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462 kostenfrei https://doaj.org/toc/0041-9419 Journal toc kostenfrei https://doaj.org/toc/2410-8057 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_2014 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 56 2014 2 |
spelling |
10.32007/med.1936/jfacmedbagdad.v56i2.11 doi (DE-627)DOAJ041978595 (DE-599)DOAJa2acc32f44b34ec3bce50a1a4d86f036 DE-627 ger DE-627 rakwb eng R5-920 Areen T. Ramadhan Al-Hadithi verfasserin aut Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Dystrophin gene, Multiplex PCR Medicine R Medicine (General) Ban A. Abdulmajeed verfasserin aut Hula R. Abdulrasool Shareef verfasserin aut In مجلة كلية الطب Faculty of Medicine University of Baghdad, 2019 56(2014), 2 (DE-627)756303664 (DE-600)2726942-5 24108057 nnns volume:56 year:2014 number:2 https://doi.org/10.32007/med.1936/jfacmedbagdad.v56i2.11 kostenfrei https://doaj.org/article/a2acc32f44b34ec3bce50a1a4d86f036 kostenfrei http://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462 kostenfrei https://doaj.org/toc/0041-9419 Journal toc kostenfrei https://doaj.org/toc/2410-8057 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_2014 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 56 2014 2 |
allfields_unstemmed |
10.32007/med.1936/jfacmedbagdad.v56i2.11 doi (DE-627)DOAJ041978595 (DE-599)DOAJa2acc32f44b34ec3bce50a1a4d86f036 DE-627 ger DE-627 rakwb eng R5-920 Areen T. Ramadhan Al-Hadithi verfasserin aut Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Dystrophin gene, Multiplex PCR Medicine R Medicine (General) Ban A. Abdulmajeed verfasserin aut Hula R. Abdulrasool Shareef verfasserin aut In مجلة كلية الطب Faculty of Medicine University of Baghdad, 2019 56(2014), 2 (DE-627)756303664 (DE-600)2726942-5 24108057 nnns volume:56 year:2014 number:2 https://doi.org/10.32007/med.1936/jfacmedbagdad.v56i2.11 kostenfrei https://doaj.org/article/a2acc32f44b34ec3bce50a1a4d86f036 kostenfrei http://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462 kostenfrei https://doaj.org/toc/0041-9419 Journal toc kostenfrei https://doaj.org/toc/2410-8057 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_2014 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 56 2014 2 |
allfieldsGer |
10.32007/med.1936/jfacmedbagdad.v56i2.11 doi (DE-627)DOAJ041978595 (DE-599)DOAJa2acc32f44b34ec3bce50a1a4d86f036 DE-627 ger DE-627 rakwb eng R5-920 Areen T. Ramadhan Al-Hadithi verfasserin aut Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Dystrophin gene, Multiplex PCR Medicine R Medicine (General) Ban A. Abdulmajeed verfasserin aut Hula R. Abdulrasool Shareef verfasserin aut In مجلة كلية الطب Faculty of Medicine University of Baghdad, 2019 56(2014), 2 (DE-627)756303664 (DE-600)2726942-5 24108057 nnns volume:56 year:2014 number:2 https://doi.org/10.32007/med.1936/jfacmedbagdad.v56i2.11 kostenfrei https://doaj.org/article/a2acc32f44b34ec3bce50a1a4d86f036 kostenfrei http://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462 kostenfrei https://doaj.org/toc/0041-9419 Journal toc kostenfrei https://doaj.org/toc/2410-8057 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_2014 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 56 2014 2 |
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Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. |
abstract |
Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. |
abstractGer |
Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. |
abstract_unstemmed |
Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin gene in a group of Iraqi dystrophinopathy patients using the multiplex polymerase chain reaction (MPCR). Patients materials and methods: This is a case prospective study which include 27 clinically diagnosed DMD/BMD patients and six suspected carriers in Medical city /Baghdad . A written consent was obtained from each family for going the research as well as ethical committee approval. Forty six apparently healthy individual were included as a control group. Blood samples were collected in 5-6 ml EDTA tubes by venepuncture. The DNA was extracted by using the Wizard Genomic purification kit (Promega/USA), and the quantity was estimated by UV-spectrophotometer (Cecil CE7800) . Ten exons of the dystrophin gene were examined ( 19 ,45 ,46 ,47 ,48 ,49 ,50 ,51 ,52,53) using synthesized primers with complementary sequences and set in five different multiplex PCR groups. The products of PCR amplifications were subjected to electrophoresis and visualized by The UVCI140 & 200 series (advanced CCD gel imaging system from Major Science. It consists of a CCD camera, UV transilluminator UV- light system). All done in college of medicine /Baghdad university. Results: The rate (relative frequency) of subjects with any positive exonal deletion (among the10 selected and tested exons was significantly higher (85.2%) among patients compared to that among the suspected carriers (33.3%).The distribution of exonal deletions among patients compared to suspected carriers were statistically significant. The frequency of deletions detected in male patients (~82%) was higher than frequencies mentioned in the other studies of comparison. The control group show no deletion in all tested exons. Conclusions: Multiplex PCR technology was utilized to demonstrate the frequency of 10 exons deletions in a limited group of Iraqi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was higher than that of DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Iraqi DMD/BMD population. |
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Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy. |
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https://doi.org/10.32007/med.1936/jfacmedbagdad.v56i2.11 https://doaj.org/article/a2acc32f44b34ec3bce50a1a4d86f036 http://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462 https://doaj.org/toc/0041-9419 https://doaj.org/toc/2410-8057 |
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