Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male

Abstract

Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.

Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms

“…Most cases of D M D and BMD are caused by deletions of the dystrophin gene observable with either cDNA probes or genomic probes within the D M D gene (Koenig et al, 1987(Koenig et al, , 1989Bartlett et al, 1988a,b;Baumbach et al, 1989). When a deletion is found in a patient, it is possible to offer simple prenatal diagnosis to family members and accurate carrier detection for female family members by dosimetry (Hejtmancik et al, 1986;Laing et al, 1989), pulsed-field gel electrophoresis (den Dunnen et al, 1987;Chen et al, 1988b), or, elegantly and almost irrefutably, when the deletion involves a polymorphic probe, through noninheritance of parental alleles or heterozygosity: deletion segregation (Bartlett et al, 1987;Bmresen et al, 1988;Chen et al, 1988a;Speer et al, 1988;Wapenaar et al, 1988;Francke et al, 1989). One restriction enzyme of choice for screening patients 0 197-385 1 /9 1/0 10063-O5$05.…”