title: Analysis of a Hind III site polymorphism in the type II collagen gene: it's location and frequencies in the Japanese population.
abstract: Hind III restriction fragment length polymorphism (RFLP) in the cartilage-specific type II collagen gene was studied in a sample of 135 persons randomly selected from the Japanese population. Localization of the Hind III site was determined by the dideoxy method. Based on this sequence, a pair of primers was designed and a polymerase chain reaction (PCR) was carried out. The Hind III allele had a frequency of 0.52 in the Japanese. The genotype digested by Hind III, (++) genotype was present with a frequency of 16.9%, (+-) was present in 70.0% and (--) was present in 13.1%, showing a lower rate of the (--) genotype in the Japanese compared to the Finnish. The difference was statistically significant, tested by chi 2 analysis (p < 0.0001). The present study is the first to report a race-dependent variance in Hind III RFLP on the type II collagen gene.
authors.affiliation: Department of Orthopedic Surgery, Oita Medical University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Okazaki
authors.forename: S
authors.initials: S
authors.lastname: Masumi
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002356:Cartilage; D003094:Collagen / Q000235:genetics*; D015247:Deoxyribonuclease HindIII / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D003094:Collagen; D015247:Deoxyribonuclease HindIII