ldentification of carriers of Duchenne and Becker muscular distrophy through genic dosage and DNA polymorphism analysis
Keywords:
carrier identification, gene dosage, microsatellites, STR, quantitative multiplex PCR, deletions, DMD/DMB
Abstract
Seven carrier and 15 non-carrier women from 16 families affected by Duchenne and Becker muscular dystrophy (DMD/DMB) were identified by quantitative PCR multiplex gene dosage. DMD/DMB patients showed 31.25% deletions and their mother carrier status was established by quantitative PCR multiplex and gene dosage analysis; no carriers of duplications were observed. X chromosome haplotypes were constructed on the maternal female relatives from both deletion and no deletion patients with dinucleotide intragenic polymorphisms D45 and SKI2 analysis; 63% of the women tested were informative in this study. After this molecular approach genetic counseling was given. thus contributing to their knowledge of risks and DMD/DMB prevention methods.Downloads
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How to Cite
1.
Hernández P, Gómez YM, Restrepo CM. ldentification of carriers of Duchenne and Becker muscular distrophy through genic dosage and DNA polymorphism analysis. Biomed. [Internet]. 2000 Sep. 1 [cited 2026 Jan. 13];20(3):228-37. Available from: https://revistabiomedicaorg.biteca.online/index.php/biomedica/article/view/1064
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Published
2000-09-01
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Original articles
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