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KMID : 0378019940370050019
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New Medical Journal
1994 Volume.37 No. 5 p.19 ~ p.30
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Genetic Analysis of Duchenne´s Muscular Dystrophy Pedigree Suspicious of Gonadal Mosaicism
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Abstract
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We performed DNA analysis of genetic pedigree suspicious of Duchenne´ s muscular dystrophy (DMD) from genetic consultation for carrier detection and prenatal diagnosis. This family was an isolated case implying a novel mutation in consultand´ s mother. We collected 10mi of blood from 12 family members´ except deceased members and one who are uncooperative for the test. For prenatal diagnosis, we obtained chorionic villus specimens from pregnant consultand at 11 weeks of gestational age. Fetus was determined as male from Q banding karyotype analysis of chorionic villi. For linkage analysis, we analyzed 10 polymorphic sites including, 754 (Pstl), pERT87. 1 (Xmnl), pERT87.8 (Tagl, BstXl), pERT87.15 (Xmnl), pERT87.30 (Bgl II), pERTJ-Bir (BamHl), cDMD 5b-7 (Xmnl), C7 (EcoRV) and 99.6 (Pstl), Discrepancy of haplotype between obligate carriers as well as identical haplotype in obligate carrier and the unaffected was observed. Based on pedigree study and linkage analysis, we suggest that the pedigree is affected by DMD mutation manifesting gonadal mosaicism, which made prenatal diagnosis and carrier detection based on DNA analysis impossible.
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