De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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 e...
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| Veröffentlicht in: | Experimental & molecular medicine 2003-04, Vol.35 (2), p.113-117 |
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| container_title | Experimental & molecular medicine |
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| creator | Mukherjee, Monisha Chaturvedi, L S Srivastava, Sandhya Mittal, R D Mittal, Balraj |
| description | 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. |
| doi_str_mv | 10.1038/emm.2003.16 |
| format | Article |
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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. 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| subjects | DNA Mutational Analysis Dystrophin - genetics Female Genetic Carrier Screening Germ-Line Mutation - genetics Haplotypes - genetics Humans Male Mosaicism - genetics Muscular Dystrophy, Duchenne - genetics Mutation - genetics Pedigree Sequence Deletion - genetics |
| title | De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases |
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