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Genetic Polymorphism of Human Factor H (β1H Globulin)

 

作者: S. Nakamura,   O. Ohue,   A. Sawaguchi,  

 

期刊: Human Heredity  (Karger Available online 1990)
卷期: Volume 40, issue 3  

页码: 121-126

 

ISSN:0001-5652

 

年代: 1990

 

DOI:10.1159/000153918

 

出版商: S. Karger AG

 

关键词: Factor H (β1H globulin);Isoelectric focusing;Electroblotting;Population study

 

数据来源: Karger

 

摘要:

Polyacrylamide gel isoelectric focusing (PAGIEF) of EDTA plasma and neuraminidase-treated plasma samples at pH 3.5–9.5 containing 8.0 Murea followed by an electroblotting with enzyme immunoassay was applied for the detection of factor H (HF) phenotypes in 536 unrelated Japanese blood donors living in Tokyo. In the major cathodal components, phenotypes of HF were classified into three common and five rare patterns, and these were considered to be controlled by two common and two rare alleles. The data suggest that the HF*Q0 allele also exists in the Japanese population. Family studies confirm the hypothesis that the HF polymorphism is controlled by autosomal codominant Mendelian inheritanc

 

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