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Genetic polymorphism of human factor H (beta 1H globulin)
S Nakamura1, O Ohue, A Sawaguchi
1Department of Legal Medicine, Tokyo Women's Medical College, Japan.
Human Heredity
|January 1, 1990
Summary
Researchers identified factor H (HF) phenotypes in Japanese blood donors using polyacrylamide gel isoelectric focusing. The study revealed common and rare HF patterns, suggesting a specific allele exists in the Japanese population.
Area of Science:
- Genetics
- Immunology
- Biochemistry
Background:
- Factor H (HF) plays a crucial role in regulating the complement system.
- Understanding HF genetic polymorphism is important for complement-mediated disease research.
Purpose of the Study:
- To investigate the genetic polymorphism of Factor H (HF) in the Japanese population.
- To classify HF phenotypes and determine their inheritance patterns.
Main Methods:
- Polyacrylamide gel isoelectric focusing (PAGIEF) of plasma samples.
- Neuraminidase treatment and electroblotting with enzyme immunoassay.
- Analysis of 536 unrelated Japanese blood donors.
Main Results:
- Identified three common and five rare HF phenotypes.
- These phenotypes are controlled by two common and two rare alleles.
- Evidence suggests the presence of the HF*Q0 allele in the Japanese population.
Conclusions:
- Factor H (HF) polymorphism in Japanese individuals follows autosomal codominant Mendelian inheritance.
- The findings contribute to the understanding of HF diversity in Asian populations.