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Genetic polymorphism of human factor H (beta 1H)
Journal of Immunology (Baltimore, Md. : 1950)
|April 1, 1984
Summary
Genetic variants of human Factor H (beta 1H) were identified using isoelectric focusing. Three codominant alleles (FH*1, FH*2, FH*3) were found, with specific gene frequencies in the studied population.
Area of Science:
- Human genetics
- Biochemistry
Background:
- Human Factor H (beta 1H) plays a crucial role in regulating the complement system.
- Polymorphisms in complement factors can influence susceptibility to various diseases.
Purpose of the Study:
- To investigate the genetic polymorphism of human Factor H.
- To identify and characterize genetic variants of Factor H in a caucasoid population.
Main Methods:
- Neuraminidase treatment and isoelectric focusing (IEF) under denaturing conditions were employed.
- Genetic variants were identified and analyzed in 81 unrelated individuals.
- Family studies were conducted to confirm Mendelian segregation.
Main Results:
- Three variants of human Factor H (FH 1, FH 2, FH 3) were identified.
- These variants segregate according to Mendelian inheritance.
- The gene frequencies for FH*1, FH*2, and FH*3 were determined as 0.691, 0.302, and 0.006, respectively.
Conclusions:
- Human Factor H is encoded by three codominant alleles (FH*1, FH*2, FH*3) at a single autosomal locus.
- The identified genetic variants provide a basis for further studies on Factor H function and associated diseases.