Prenatal Diagnosis of Duchenne Muscular Dystrophy in the Japanese Population by Fluorescent CA Repeat Polymorphisms Analysis

Abstract

CA repeat analysis using fluorescence-labeled primers is useful in the prenatal diagnosis of Duchenne muscular dystrophy in the Japanese population.

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

“…So far, STR analysis has mainly been used for carrier and prenatal diagnosis in non-deletional DMD families as an indirect tool for linkage study (Arenas et Shiroshita and Katayama 1997;Baranzini et al, 1998). Our results, however, clearly depict the relevance of (CA)n loci for carrier analysis and prenatal diagnosis in deletional DMD families with no previous history of the disease.…”

Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy

“…Linkage analysis based on dinucleotide (CA)n polymorphic loci in the dystrophin gene has been widely used in the carrier analysis and prenatal diagnosis of D/BMD families where no intragenic deletion(s) has been detected in the proband [7–9]. We have evaluated the utility of (CA)n linkage analysis in the determination of carrier status in deletional DMD families having intragenic deletion in the major hotspot (exons 44–52) region.…”

Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families

“…Several methods have been devised to identify deletions, duplications, and point mutations in affected males and female carriers 6–10. Segregation analysis of short tandem repeat (STR) polymorphic loci in the dystrophin gene is widely used for carrier detection and prenatal diagnosis of DMD/BMD families, in which the causative mutations cannot be identified in either the proband or female 11–14…”