De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.
- Author:
Monisha MUKHERJEE
1
;
L S CHATURVEDI
;
Sandhya SRIVASTAVA
;
R D MITTAL
;
Balraj MITTAL
Author Information
1. Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Raebareli Road, Lucknow 226014, India. balraj@sgpgi.ac.in
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
dinucleotide repeats;
germline mutation;
heterozygote detection;
mosaicism;
muscular dystro-phy;
Duchenne;
polymorphism
- MeSH:
DNA Mutational Analysis;
Dystrophin/*genetics;
Female;
Germ-Line Mutation/genetics;
Haplotypes/genetics;
Heterozygote Detection;
Human;
Male;
Mosaicism/genetics;
Muscular Dystrophy, Duchenne/*genetics;
Mutation/*genetics;
Pedigree;
Sequence Deletion/genetics
- From:Experimental & Molecular Medicine
2003;35(2):113-117
- CountryRepublic of Korea
- Language:English
-
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.
