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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
Abstract:
A novel polymorphic site has been found in the 3' untranslated region (UTR) of the human complement component 7 (C7) gene. The polymorphic site at 14-bp down-stream from the TAG stop codon was either C or A (Nco I-digested), with allele frequencies of 0.660 and 0.340. This NcoI polymorphism would be useful to perform a DNA marker haplotype study in patients with deficiencies of the complement genes, such as C6, C7, C9, which are located closely on chromosome 5p13.