Duchenne muscular dystrophy (DMD) is a progressive and lethal neuromuscular disorder caused by a defective gene on the X chromosome. There is no effective treatment and the biochemical defect is yet unknown. Mapping of the DMD locus to band Xp21 in the short arm of the X chromosome has given rise to
DNA analysis in Turkish Duchenne/Becker muscular dystrophy families
✍ Scribed by Esra Battaloğlu; Milhan Telatar; Feza Deymeer; Piraye Serdaroğlu; Faik Kuseyri; Coşkun Özdemir; Memnune Apak; Ashhan Tolun
- Book ID
- 104670015
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 428 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
The molecular genetics of Duchenne/Becker muscular dystrophy was investigated in 81 affected Turkish families. Deletions were detected by multiplex polymerase chain reaction assays and cDNA Southern analyses. The distribution of the deletions along the gene and their correlation to clinical phenotype were different from the studies reported on other populations. Moreover, DNA polymorphisms in mothers were determined using 8 DNA probes and three CA repeat sequences, and a high degree of informativeness was observed.
📜 SIMILAR VOLUMES
## Introduction: Duchenne/becker muscular dystrophies (dmd/bmd) are x-linked recessive diseases caused by mutations in the dystrophin gene. ## Methods: We used multiplex polymerase chain reaction (pcr) and short tandem repeat (str) segregation analysis for dmd/bmd-carrier detection and prenatal d