Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Helena Kruyer, Merce Miranda, Victor Volpini, Xavier P. Estivill

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at‐risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non‐paternity.

Original languageEnglish
Pages (from-to)123-130
Number of pages8
JournalPrenatal Diagnosis
Volume14
Issue number2
DOIs
Publication statusPublished - 1994
Externally publishedYes

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Keywords

  • carrier detection
  • Duchenne muscular dystrophy
  • microsatellites
  • short tandem repeat polymorphisms

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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