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An NcoI polymorphism in the human complement component 7 (C7) gene.

T Horiuchi1, H Nishizaka, H Tsukamoto

  • 1First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan. horiuchi@intmed1.med.kyushu-u.ac.jp

Journal of Human Genetics
|August 3, 1999
PubMed
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Researchers discovered a new C or A DNA variation in the human complement component 7 (C7) gene. This finding provides a valuable genetic marker for studying complement deficiencies linked to chromosome 5p13.

Area of Science:

  • Genetics
  • Immunology

Background:

  • The human complement system is crucial for innate immunity.
  • Deficiencies in complement components like C7 are associated with increased susceptibility to infections.
  • Genetic variations can influence complement component function and levels.

Purpose of the Study:

  • To identify and characterize novel polymorphic sites within the human complement component 7 (C7) gene.
  • To assess the potential utility of identified polymorphisms as genetic markers for complement-related disorders.

Main Methods:

  • DNA sequencing and analysis of the 3' untranslated region (UTR) of the human C7 gene.
  • Restriction fragment length polymorphism (RFLP) analysis using NcoI restriction enzyme.
  • Allele frequency determination in the studied population.

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Main Results:

  • A novel polymorphic site was identified in the 3' UTR of the C7 gene, 14 bp downstream of the stop codon.
  • The polymorphism resulted in two alleles, C and A, upon NcoI digestion.
  • Observed allele frequencies were 0.660 for C and 0.340 for A.

Conclusions:

  • The identified NcoI polymorphism in the C7 gene represents a useful DNA marker.
  • This marker can aid in performing DNA marker haplotype studies for complement gene deficiencies.
  • Its location on chromosome 5p13, near other complement genes (C6, C9), enhances its utility for linkage analysis.