title: High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients.
abstract: Accurate carrier determination is an important aspect in providing prenatal diagnosis and genetic counselling to families with Duchenne/Becker muscular dystrophy patients. Using quantitative polymerase chain reaction, we have analyzed the carrier status of 31 mothers (5 familial and 23 sporadic) who have an affected son with known deletion in the dystrophin gene. Only four out of 23 mothers of sporadic cases turned out to be heterozygous for the deleted exons. The lower number of carrier mothers in sporadic cases suggests a higher frequency of new mutations in North Indian DMD@BMD patients.
authors.affiliation: Department of Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, India.
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: S
authors.initials: S
authors.lastname: Mishra
authors.forename: V
authors.initials: V
authors.lastname: Singh
authors.forename: R D
authors.initials: RD
authors.lastname: Mittal
authors.forename: B
authors.initials: B
authors.lastname: Mittal
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016296:Mutagenesis
chemical_list: D016189:Dystrophin