ALLELE FREQUENCIES OF MP6D-9 AND GATT MARKERS IN 32 TURKISH CYSTIC-FIBROSIS FAMILIES

OZGUC M., YILMAZ E., ERDEM H., COSKUN T., ÖZÇELİK H. U., TOGAN I., ...More

CLINICAL GENETICS, vol.45, no.5, pp.266-268, 1994 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 45 Issue: 5
  • Publication Date: 1994
  • Doi Number: 10.1111/j.1399-0004.1994.tb04153.x
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.266-268
  • Keywords: CYSTIC FIBROSIS, GATT, MP6D-9, LINKAGE DISEQUILIBRIUM, DELTA-F508 MUTATION, GENE, DNA, CHROMOSOMES, HAPLOTYPES, POPULATION, REPEAT, LOCUS, XV-2C
  • Hacettepe University Affiliated: No

Abstract

The allele frequency of GATT and Mp6D-9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6 allele was found to be significantly associated with the DELTAF508 mutation. The Mp6D-9 allele 2/GATT6 haplotype was the major haplotype of the mutant alleles. Further analysis of CF alleles for population-specific mutations is underway so that a more direct approach can be taken, especially for families seeking prenatal diagnosis.