ALLELE FREQUENCIES OF MP6D-9 AND GATT MARKERS IN 32 TURKISH CYSTIC-FIBROSIS FAMILIES
CLINICAL GENETICS, cilt.45, sa.5, ss.266-268, 1994 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 45 Sayı: 5
- Basım Tarihi: 1994
- Doi Numarası: 10.1111/j.1399-0004.1994.tb04153.x
- Dergi Adı: CLINICAL GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.266-268
- Anahtar Kelimeler: CYSTIC FIBROSIS, GATT, MP6D-9, LINKAGE DISEQUILIBRIUM, DELTA-F508 MUTATION, GENE, DNA, CHROMOSOMES, HAPLOTYPES, POPULATION, REPEAT, LOCUS, XV-2C
- Hacettepe Üniversitesi Adresli: Hayır
Özet
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.