COMPLEMENT FACTOR H Y403H POLYMORPHISM
IN THE TURKISH POPULATION
Yunus Arikan Y, Türker Bilgen T, Ibrahim Keser I,
*Corresponding Author: Ibrahim Keser, Department of Medical Biology and Genetics, Faculty
of Medicine, Akdeniz University, TR-07059, Antalya, Turkey; Tel.:+90-242-249-6973; Fax:+90-
242-227-4495; E-mail: keser@akdeniz.edu.tr
page: 41
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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.
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