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Complement Factor H Y403H Polymorphism in the Turkish Population Cover

Complement Factor H Y403H Polymorphism in the Turkish Population

Open Access
|Jan 2011

Abstract

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.

Language: English
Page range: 41 - 45
Published on: Jan 20, 2011
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2011 Arikan Yunus, Bilgen Türker, Keser Ibrahim, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 2 (December 2010)