SCREENING OF DELETIONS AND RFLP ANALYSIS IN TURKISH DMD/BMD FAMILIES BY PCR


GOKGOZ N., KUSEYRI F., TOPALOGLU H., YUKSELAPAK M., KIRDAR B.

CLINICAL GENETICS, vol.43, no.5, pp.261-266, 1993 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 5
  • Publication Date: 1993
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.261-266

Abstract

We have screened 76 DMD and 5 BMD patients for deletions, using two separate Multiplex gene amplification systems. The use of both systems together revealed deletions in 52% of the cases in the Turkish population. The majority of these deletions (33/37) were found to be localized within the central region of the dystrophin gene. The remaining deletions were mapped to the proximal hotspot. Deletion end-points were identified by PCR and/or by Southern blot analysis with cDNA probes, and exceptions to the Open Reading Frame (ORF) hypothesis are discussed. PCR-based techniques to screen the pERT87.15/XmnI, pERT87.15/BamHI, and pERT87.8/TaqI polymorphisms were used for linkage analysis in the Turkish DMD/BMD families, and approximately 70% of the mothers at risk were found to be informative for at least one of these polymorphisms studied.