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Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation
Author(s) -
Caskey C. Thomas,
Nussbaum Robert L.,
Cohan Leslie C.,
Pollack Lynda
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb02293.x
Subject(s) - duchenne muscular dystrophy , mutation , genetics , carrier testing , muscular dystrophy , inheritance (genetic algorithm) , x linked recessive inheritance , genetic counseling , medicine , biology , prenatal diagnosis , x chromosome , pregnancy , gene , fetus
The mechanism of inheritance of sporadically occurring Duchenne muscular dystrophy has been investigated in 42 families, using carrier detection methods and genetic evaluation. Our studies find that serum CPK detects 72 % of female carriers of DMD. Quantitative LDH and/or its isozymes were not found to be a useful means of carrier detection, as reported by Roses et al. (1977). Employing family pedigree data and CPK carrier testing, we determined by Bayesian methods the probability that the mother and maternal grandmother in these families were DMD carriers. These studies revealed 23 families (Category I) with no evidence for DMD carriers, 11 families (Category 11) in which the mother was found to be a carrier, and 3 families (Category III) in which both mother and maternal grandmother were found to be carriers. Nineteen of the 42 families have a greater than 83 % probability that the sporadic DMD case arose by mutation in a maternal gamete. This finding is in good agreement with the theoretically expected ⅓ of DMD cases arising by new mutation.