Carrier detection in families of Duchenne and Becker muscular dystrophy by methods of repeat sequence polymorphism and gene dosage analysis / 中华神经科杂志

ABSTRACT

Objective To develop and compare the methods for determining the carrier status in the 18 deleted families of Duchenne and Becker muscular dystrophy. Methods Deletion analysis of the probands was performed by multiplex polymerase chain reaction (PCR) to amplify 9 dystrophin exons described by Chamberlain. Polymorphism linkage analysis was made on DNA with PCR amplification using primers of intragenic short tandem repeat sequences (STR44, STR45, STR49 and STR50), primers of 5′ end (5′DYS II) and primers of 3′end (MZ18, MZ19) in the members of the families. Gene dosage analysis was performed and DQ value was calculated. Results Both of deletions of exons and STR allelic fragments adjacent to the deleted exons were determined in the probands. STR allelic fragments of 6 pairs of heterozygotes, 2 pairs of homozygotes and 11 hemizygotes were detected at those loci in all of the female relatives. 13 female relatives in deleted families were assayed with gene dosage analysis. In 9 /13 female relatives DQ value was in the range of single copy and carrier status was ascertained.Conclusion Repeat sequence polymorphism as well as gene dosage analysis can potentially be used in carrier detection in the deleted families of Duchenne and Becker muscular dystrophy.