A variation in the HindIII restriction pattern of the dystrophin gene DMD with cDMD probe 11–14
✍ Scribed by Vaishali Handa; Asha Kaul; Daman Kumari; Shobha Goyle
- Book ID
- 101263103
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 110 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
To the Editor: The normal restriction pattern of the dystrophin gene (DMD; MIM# 310200) with 8 cDMD probes (1-2a, 2b-3, 4-5a, 5b-7, 8, 9, 10 and 11-14) has been described in about 60 normal individuals of mixed ethnic origin, mainly Caucasians [Darras and Francke, 1988a]. A similar restriction pattern in Indian subjects (40 DMD patients, their family members, and 20 normal healthy controls) was observed with 7 cDMD probes (1-2a, 2b-3, 4-5a, 5b-7, 8, 9, and 10). The eighth probe, 11-14, showed a polymorphism in these subjects with a gain of a new ~2.8kb HindIII fragment, and a loss of 1.9-and 1.8-kb fragments [Mital et al., 1998].
Since no population is fixed for different alleles, we reassessed the HindIII restriction pattern of the dystrophin gene with probe 11-14 in a fresh set of 112 Indian subjects (74 males and 38 females); 51 individuals from unrelated families suffering from neuromuscular disorders, Duchenne (DMD), Becker (BMD), and Limb girdle (LGMD) muscular dystrophy, Spinal muscular atrophy (SMA) and Quadriceps myopathy (QM), their family members (44) and control (17) DNA samples. We also assessed 9 control DNA samples (6 males and 3 females) from individuals of other ethnic origin, British (3), German (1), Belgium (1), African (2), and Korean (2).
We observed a total of 10 fragments (10.0, 7.8, 6.8, 6.0, 5.9, 2.8, 2.1, 1.9/1.8, 1.5, and 1.45 kb) with probe 11-14 (Fig. 1). A strongly hybridising fragment of 2.8 kb is present in each of the subjects, while the 1.9-and 1.8-kb bands appear as a single faint co-migrating fragment.
X-chromosomal origin for all the fragments was confirmed by dosage, with female DNA (lane 5) showing two-copy intensity and male DNA (lanes 1, 2, 3, 4 and 6) showing single-copy intensity (Fig.