title: Nonrandom association of a type II procollagen genotype with achondroplasia.
abstract: Achondroplasia is an autosomal dominant disorder that involves defective endochondral bone formation. Type II collagen is the predominant collagen of cartilage. We found a HindIII polymorphic site in the normal Caucasian population by using the type II procollagen gene probe pgHCol(II)A. The presence of this site yields a 7.0-kilobase (kb) band; its absence yields a 14.0-kb band. We found a significant deviation in genotype distribution and allele frequencies in a population of unrelated individuals with sporadic achondroplasia, compared with the normal control population. The HindIII genotype frequencies in 32 individuals with achondroplasia are 0.41 for the 7/7 genotype (controls, 0.08), 0.34 for the 7/14 genotype (controls, 0.54), and 0.25 for the 14/14 genotype (controls, 0.37). The apparent equilibrium excess of the "7" allele in individuals with achondroplasia may reflect either a predisposition for the mutation that causes achondroplasia or it could be the result of the achondroplasia-causing mutation. In either case, these findings suggest an association of the type II procollagen gene with achondroplasia.
authors.forename: C E
authors.initials: CE
authors.lastname: Eng
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
authors.forename: C M
authors.initials: CM
authors.lastname: Strom
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005260:Female; D005787:Gene Frequency; D005796:Genes; D005838:Genotype; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D011347:Procollagen / Q000235:genetics*; D012737:Sex Factors
chemical_list: D011347:Procollagen; D004262:DNA Restriction Enzymes