Complement Factor H Y403H Polymorphism in the Turkish Population

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>...

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Published inBalkan journal of medical genetics Vol. 13; no. 2; pp. 41 - 45
Main Authors Yunus, Arikan, Türker, Bilgen, Ibrahim, Keser
Format Journal Article
LanguageEnglish
Published Sofia Versita 01.01.2010
De Gruyter Poland
Sciendo
Subjects
c.1277 T>C
Complement factor H (CFH)
Polymorphism
Y402H
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Summary: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.
Bibliography:ArticleID:v10034-010-0025-5
ark:/67375/QT4-QHGMMWF7-F
v10034-010-0025-5.pdf
istex:46E82E32BBD843D44850C7B31E6AFB1336E4FAFD
ISSN:1311-0160
2199-5761
DOI:10.2478/v10034-010-0025-5