Nonrandom Association of a Type II Procollagen Genotype with Achondroplasia

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 presenc...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1985-08, Vol.82 (16), p.5465-5469
Main Authors: Charis E. L. Eng, Pauli, Richard M., Strom, Charles M.
Format: Article
Language:English
Subjects:
Achondroplasia
Achondroplasia - genetics
Alleles
Biological and medical sciences
Cloning, Molecular
Collagens
DNA
DNA probes
DNA Restriction Enzymes
Female
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genes
Genetic mutation
Genetics of eukaryotes. Biological and molecular evolution
Genomics
Genotype
Genotypes
Human
Humans
Male
Nucleic Acid Hybridization
Polymorphism, Genetic
Population distributions
Population genetics, reproduction patterns
Procollagen - genetics
Sex Factors
White people
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Summary: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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.82.16.5465