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

Bachrati, CZ [Bachrati, Csanád (genetika), author] Genetikai Intézet (SZBK); Somodi, Z; Endreffy, E [Börcsökné Endreffy, Emőke (Klinikai molekulá...), author] Department of Paediatrics and Paediatric Health... (USZ / ÁOK); Kalmar, T [Kalmár, Tibor (genetika), author] Genetikai Intézet (SZBK); Rasko, I [Raskó, István (Genetika), author] Genetikai Intézet (SZBK)

English Scientific Article (Journal Article)
Published: ANNALS OF HUMAN GENETICS 0003-4800 1469-1809 62 (6) pp. 511-520 1998
      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.
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      2021-03-08 02:15