## 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
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families
β Scribed by H. Dorkins; C. Iunien; J. L. Mandel; K. Wrogemann; J. P. Moison; M. Martinez; J. M. Old; S. Bundey; M. Schwartz; N. Carpenter; D. Hill; M. Lindlof; A. Chapelle; P. L. Pearson; K. E. Davies
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 469 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD families four crossovers were observed in 38 informative meioses between C7 and the DMD locus (theta = 0.12, z max = +2.72). In BMD families no recombinants were observed in the 16 informative meioses studied. These data are consistent with the localisation of the mutations in these disorders being in the same region of Xp21. Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as X centromere-754-DMD-BMD-C7-X telomere. A recombination fraction of 0.11 (z max = +5.58) was found between DMD-754 by combining our previously published data with the data presented here. C7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD.
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We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular
For the first time in Bulgaria, a deletion/ duplication screening was performed on a group of 84 unrelated Duchennemecker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplicat