DNA ANALYSIS IN TURKISH DUCHENNE BECKER MUSCULAR-DYSTROPHY FAMILIES

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

HUMAN GENETICS, cilt.89, sa.6, ss.635-639, 1992 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 89 Sayı: 6
  • Basım Tarihi: 1992
  • Doi Numarası: 10.1007/bf00221954
  • Dergi Adı: HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.635-639
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.