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Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families
Author(s) -
Kruyer Helena,
Miranda Merce,
Volpini Victor,
Estivill Xavier
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140208
Subject(s) - loss of heterozygosity , duchenne muscular dystrophy , microsatellite , muscular dystrophy , genetics , haplotype , biology , multiplex polymerase chain reaction , polymerase chain reaction , gene , genotype , allele
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.