COMPLEMENT FACTOR H Y403H POLYMORPHISM IN THE TURKISH POPULATION

Yunus A. Y., Turker B. T., Ibrahim K. I.

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.13, sa.2, ss.41-45, 2010 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.2478/v10034-010-0025-5
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.41-45
  • Anahtar Kelimeler: Complement factor H (CFH), c.1277 T > C, Polymorphism, Y402H, HEMOLYTIC-UREMIC SYNDROME, HEPARIN-BINDING DOMAIN, MACULAR DEGENERATION, GENE POLYMORPHISMS, NO ASSOCIATION, VARIANT, RISK, SUSCEPTIBILITY, IDENTIFICATION, INDIVIDUALS
  • Yozgat Bozok Üniversitesi Adresli: Hayır

Özet

Complement factor H (CFH) is an important regulator protein of the alternative pathway of the complement system. The CFH mutations and polymorphisms in CFH have been associated with diseases of the kidney and eye. We investigated the allelic frequency of the most common CFH polymorphism, c. 1277 T>C (Y402H), in 100 healthy Turkish volunteers from the Antalya Province by direct sequencing of the corresponding genomic region. We found a frequency of 0.65% for the T and 0.35% for the C alleles. The frequency of the TT, CT and CC genotypes was 0.40, 0.49 and 0.11% respectively. Thus, the disease-related C allele has a frequency in Turkey similar to that of Caucasian populations.