title: De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.
abstract: Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped exonic deletions. We have used 4 STR loci of the central deletional hotspot of the dystrophin gene for genetic analysis in sporadic unrelated DMD families. Twenty-nine mothers of sporadic deletional cases were analysed and their carrier status was determined. Eighteen of them showed heterozygosity in the deleted loci suggesting the occurrence of de novo mutations. In 9 cases, the carrier status was indeterminate while 2 showed germline mosaicism. Our observations reiterated the importance of STR analysis in determining the status of mothers of sporadic deletional DMD cases in order to provide proper genetic counselling.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India.
authors.forename: Monisha
authors.initials: M
authors.lastname: Mukherjee
authors.forename: L S
authors.initials: LS
authors.lastname: Chaturvedi
authors.forename: Sandhya
authors.initials: S
authors.lastname: Srivastava
authors.forename: R D
authors.initials: RD
authors.lastname: Mittal
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D016189:Dystrophin