High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling

Authors: Alcántara, Ma¹; Villarreal, Mt¹; Del Castillo, V¹; Gutiérrez, G¹; Saldaña, Y¹; Maulen, I¹; Lee, R¹; Macías, M¹; Orozco, L¹

Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 377-381(5)

Publisher: Blackwell Publishing

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Abstract:

Duchenne muscular dystrophy (DMD) is the most common lethal hereditary neuromuscular disease. As there is no effective treatment, accurate carrier detection is essential for genetic counseling and prevention. Although linkage analysis has been widely used for this purpose, being an indirect analysis it has several limitations. Using linkage analysis for carrier detection, we found serious limitations, mainly because 82.9% of all proposita were isolated cases. We used quantitative polymerase chain reaction for direct carrier detection in families with exon deletions and found a higher than expected frequency of de novo deletions (62.2%). Furthermore, only 20.7% of the mothers of isolated deletion DMD/Becker muscular dystrophy (BMD) patients were found to be carriers. This result suggests that the Mexican population has a high frequency of de novo DMD mutations.

Keywords: carrier detection; Duchenne muscular dystrophy; gene deletion; quantitative PCR

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550514.x

Affiliations: 1: Department of Research in Human Genetics, National Institute of Pediatrics,

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