title: An NcoI polymorphism in the human complement component 7 (C7) gene.
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.
authors.affiliation: First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan. horiuchi@intmed1.med.kyushu-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: H
authors.initials: H
authors.lastname: Nishizaka
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: S
authors.initials: S
authors.lastname: Harashima
authors.forename: T
authors.initials: T
authors.lastname: Sawabe
authors.forename: C
authors.initials: C
authors.lastname: Morita
authors.forename: Y
authors.initials: Y
authors.lastname: Niho
mesh_terms: D000483:Alleles; D002895:Chromosomes, Human, Pair 5; D003184:Complement C7 / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D003184:Complement C7; D005819:Genetic Markers; C052380:endodeoxyribonuclease NcoI; D015252:Deoxyribonucleases, Type II Site-Specific