DNA ANALYSIS IN TURKISH DUCHENNE BECKER MUSCULAR-DYSTROPHY FAMILIES


BATTALOGLU E., TELATAR M., DEYMEER F., SERDAROGLU P., KUSEYRI F., OZDEMIR C., ...More

HUMAN GENETICS, vol.89, no.6, pp.635-639, 1992 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89 Issue: 6
  • Publication Date: 1992
  • Doi Number: 10.1007/bf00221954
  • Journal Name: HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.635-639
  • Istanbul University Affiliated: No

Abstract

The molecular genetics of Duchenne/Becker muscular dystrophy was investigated in 81 affected Turkish families. Deletions were detected by multiplex polymerase chain reaction assays and cDNA Southern analyses. The distribution of the deletions along the gene and their correlation to clinical phenotype were different from the studies reported on other populations. Moreover, DNA polymorphisms in mothers were determined using 8 DNA probes and three CA repeat sequences, and a high degree of informativeness was observed.