Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria
Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy, reaching one out of every 5000 male births in the world population. It is characterized by progressive muscular degeneration from a young age and leads to serious failures of the body which lead to the death...
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artikulua |
| Hizkuntza: | English |
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University of Oran 1
2022-04-01
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| Saila: | Journal de la Faculté de Médecine d'Oran |
| Gaiak: | |
| Sarrera elektronikoa: | https://confajol3.ajol.info/index.php/jmfo/article/view/456 |
| _version_ | 1828821110085386240 |
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| author | Houssam BOULENOUAR Fatima-Zohra MOGHTIT Amine MELLOUK Khaldia BENLHADJ-DJELLOUL Hadjira OUHAIBI DJELLOULI Mohamed BENMANSOUR Sarah LARJAM HETRAF Faouzia ZEMANI FODIL Nadhira SAIDI MEHTAR Sounnia MEDIENE BENCHEKOR |
| author_facet | Houssam BOULENOUAR Fatima-Zohra MOGHTIT Amine MELLOUK Khaldia BENLHADJ-DJELLOUL Hadjira OUHAIBI DJELLOULI Mohamed BENMANSOUR Sarah LARJAM HETRAF Faouzia ZEMANI FODIL Nadhira SAIDI MEHTAR Sounnia MEDIENE BENCHEKOR |
| author_sort | Houssam BOULENOUAR |
| collection | DOAJ |
| description |
Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy, reaching one out of every 5000 male births in the world population. It is characterized by progressive muscular degeneration from a young age and leads to serious failures of the body which lead to the death of the patient. The gene responsible for DMD is located on chromosome X. It encodes a membrane cytoskeleton protein»the dystrophin». The alterations affecting this gene are essentially deletions with a proportion of 65%. That’s why we have interested to develop in our laboratory a technique that will allow us to detect this type of mutations in 5 sporadic cases with Duchenne myopathy from West Algeria. The study consisted in amplifying by PCR multiplex that cover 19 exons of the DMD gene most commonly deleted. This study allowed us to reveal two different deletions, the first involving the promoter of the gene and the second one the exon 43. These first results confirm the data reported in the literature which classify these two regions as deletion hotspots.
The results obtained represent a first in the western Algerian and could lead to the generalization of genotypic diagnosis and genetic counseling with a view to improve the care of patients in Algeria.
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| first_indexed | 2024-12-12T12:46:52Z |
| format | Article |
| id | doaj.art-6a96e06cad3a48e88d5f857e2594e8aa |
| institution | Directory Open Access Journal |
| issn | 2571-9874 2602-6511 |
| language | English |
| last_indexed | 2024-12-12T12:46:52Z |
| publishDate | 2022-04-01 |
| publisher | University of Oran 1 |
| record_format | Article |
| series | Journal de la Faculté de Médecine d'Oran |
| spelling | doaj.art-6a96e06cad3a48e88d5f857e2594e8aa2022-12-22T00:24:05ZengUniversity of Oran 1Journal de la Faculté de Médecine d'Oran2571-98742602-65112022-04-0111456Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western AlgeriaHoussam BOULENOUAR0Fatima-Zohra MOGHTIT1Amine MELLOUK2Khaldia BENLHADJ-DJELLOUL3Hadjira OUHAIBI DJELLOULI4Mohamed BENMANSOUR5Sarah LARJAM HETRAF6Faouzia ZEMANI FODIL7Nadhira SAIDI MEHTAR8Sounnia MEDIENE BENCHEKOR9Laboratoire de Génétique Moléculaire et Cellulaire, Université des sciences et de la technologie d’Oran- Mohamed BOUDIAF, Oran,Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranUniversité Paris Sud91405, Orsay cedex, FranceLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranDépartement de Médecine, Faculté de Médecine « Dr BenzerdjebBenaouda », Université AboubekrBelkaid- Tlemcen, AlgérieLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, OranLaboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et Technologie d’Oran Mohammed Boudiaf, Oran Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy, reaching one out of every 5000 male births in the world population. It is characterized by progressive muscular degeneration from a young age and leads to serious failures of the body which lead to the death of the patient. The gene responsible for DMD is located on chromosome X. It encodes a membrane cytoskeleton protein»the dystrophin». The alterations affecting this gene are essentially deletions with a proportion of 65%. That’s why we have interested to develop in our laboratory a technique that will allow us to detect this type of mutations in 5 sporadic cases with Duchenne myopathy from West Algeria. The study consisted in amplifying by PCR multiplex that cover 19 exons of the DMD gene most commonly deleted. This study allowed us to reveal two different deletions, the first involving the promoter of the gene and the second one the exon 43. These first results confirm the data reported in the literature which classify these two regions as deletion hotspots. The results obtained represent a first in the western Algerian and could lead to the generalization of genotypic diagnosis and genetic counseling with a view to improve the care of patients in Algeria. https://confajol3.ajol.info/index.php/jmfo/article/view/456Duchenne musculardystrophyDystrophinMultiplex PCRdeletionsX chromosome |
| spellingShingle | Houssam BOULENOUAR Fatima-Zohra MOGHTIT Amine MELLOUK Khaldia BENLHADJ-DJELLOUL Hadjira OUHAIBI DJELLOULI Mohamed BENMANSOUR Sarah LARJAM HETRAF Faouzia ZEMANI FODIL Nadhira SAIDI MEHTAR Sounnia MEDIENE BENCHEKOR Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria Journal de la Faculté de Médecine d'Oran Duchenne musculardystrophy Dystrophin Multiplex PCR deletions X chromosome |
| title | Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria |
| title_full | Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria |
| title_fullStr | Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria |
| title_full_unstemmed | Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria |
| title_short | Development of genotypic diagnosis of Duchenne muscular dystrophy by multiplex PCR in Oran: A study of 5 cases of western Algeria |
| title_sort | development of genotypic diagnosis of duchenne muscular dystrophy by multiplex pcr in oran a study of 5 cases of western algeria |
| topic | Duchenne musculardystrophy Dystrophin Multiplex PCR deletions X chromosome |
| url | https://confajol3.ajol.info/index.php/jmfo/article/view/456 |
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