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Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families

Published online by Cambridge University Press:  01 November 1998

C. Z. BACHRATI ,
Z. SOMODI ,
E. ENDREFFY ,
T. KALMÁR  and
I. RASKÓ
C. Z. BACHRATI
Affiliation:
Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB. 521, H-6701, Szeged Hungary
Z. SOMODI
Affiliation:
Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB. 521, H-6701, Szeged Hungary
E. ENDREFFY
Affiliation:
Department of Paediatrics, Albert Szent-Györgyi Medical University, POB. 471, H-6701, Szeged Hungary
T. KALMÁR
Affiliation:
Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB. 521, H-6701, Szeged Hungary
I. RASKÓ
Affiliation:
Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB. 521, H-6701, Szeged Hungary
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Abstract

Duchenne and Becker muscular dystrophies are among the most severe and frequent inherited disorders. Being still incurable, medical treatment is concentrated on the carrier diagnosis of the members of the affected families. Here we report the results of the studies of 151 members of 41 Hungarian families, obtained with multiplex PCR amplification of 18 exons as well as the muscle specific promoter region, and haplotype analysis of two polymorphic (CA)n repeat microsatellite loci in introns 45 and 49 of the dystrophin gene. The analysis of 15 deletion-type families revealed a frequency of new mutations not differing significantly from that in the other regions of Europe. We also compared the allele distributions of the two microsatellites in randomly selected normal individuals and affected family members. The allele distribution of STRP45 shows interesting differences between the two populations.

Type
Research Article
Information
Annals of Human Genetics , Volume 62 , Issue 6 , November 1998 , pp. 511 - 520
Copyright
University College London 1998

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