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C8A and C8B polymorphisms in Norwegians and Norwegian lapps.

S Rogde1, P Teisberg, B Olaisen

  • 1Institute of Forensic Medicine, University of Oslo, Norway.

Human Heredity
|January 1, 1989
PubMed
Summary

Silent alleles in complement component 8 (C8) genes were investigated. A null allele (C8BQ*0) was detected in C8B, with an estimated frequency of 0.07 in Norwegians.

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Area of Science:

  • Genetics
  • Immunogenetics
  • Biochemistry

Background:

  • Complement component 8 (C8) is crucial for the membrane attack complex formation.
  • C8 comprises alpha-gamma (C8A) and beta (C8B) chains, with known polymorphic systems.
  • Understanding C8 inheritance and allele frequencies is important for population genetics and disease association studies.

Purpose of the Study:

  • To evaluate the existence of silent alleles (null alleles) in C8A and C8B genes.
  • To determine the allele frequencies of C8A and C8B in Norwegian populations.
  • To compare C8A gene frequencies with other populations.

Main Methods:

  • Analysis of C8 inheritance patterns in 364 mother-child pairs.
  • Evaluation of C8A and C8B phenotype distributions in two Norwegian population samples (150 Lappish, 1,264 non-Lappish).
  • Application of Hardy-Weinberg equilibrium principles for phenotype distribution analysis.

Main Results:

  • No evidence for null alleles was found in the C8A gene.
  • Two instances of null allele segregation in C8B suggest a C8BQ*0 allele frequency of approximately 0.07.
  • Phenotype distributions for C8A and C8B largely adhered to Hardy-Weinberg expectations, indicating simple, codominant inheritance for C8A.

Conclusions:

  • The C8B gene likely harbors a null allele (C8BQ*0) with a notable frequency in the Norwegian population.
  • C8A exhibits simple, codominant inheritance with common and rare alleles, showing similar frequencies across Lappish and non-Lappish Norwegians.
  • Norwegian C8A gene frequencies differ significantly from those reported in Germany (FRG) and Black populations.

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