<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Complement factor H (<italic>CFH</italic>) is an important regulator protein of the alternative pathway of the complement system. The <italic>CFH</italic> mutations and polymorphisms in CFH have been associated with diseases of the kidney and eye. We investigated the allelic frequency of the most common <italic>CFH</italic> 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.</p></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.

Complement Factor H Y403H Polymorphism in the Turkish Population

Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, TR-07059, Antalya, Turkey

Balkan Journal of Medical Genetics

{"article-title":"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...

Complement Factor H Y403H Polymorphism in the Turkish Population

Pubblicato online: 20 gen 2011

Pagine: 41 - 45

DOI: https://doi.org/10.2478/v10034-010-0025-5

Parole chiave
Complement factor H (), c.1277 T>C, Polymorphism, Y402H

This content is open access.

Complement Factor H Y403H Polymorphism in the Turkish Population

Pubblicato online: 20 gen 2011

Pagine: 41 - 45

DOI: https://doi.org/10.2478/v10034-010-0025-5

Parole chiaveComplement factor H (), c.1277 T>C, Polymorphism, Y402H

This content is open access.

Parole chiave
Complement factor H (), c.1277 T>C, Polymorphism, Y402H