Polymorphism of DNA sequence in the human pro α2(I) collagen gene

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dc.contributor.authorGrobler-Rabie A.F.
dc.contributor.authorBrebner D.K.
dc.contributor.authorVan Den Plas S.
dc.date.accessioned2011-05-15T16:03:36Z
dc.date.available2011-05-15T16:03:36Z
dc.date.issued1985
dc.description.abstractThe human pro α2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro α2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.
dc.description.versionArticle
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation22
dc.identifier.citation3
dc.identifier.issn222593
dc.identifier.urihttp://hdl.handle.net/10019.1/12696
dc.subjectcollagen gene
dc.subjectdna polymorphism
dc.subjectgene location
dc.subjectgenetic engineering
dc.subjectheredity
dc.subjecthuman
dc.subjecthuman cell
dc.subjectnormal value
dc.subjectnucleotide sequence
dc.subjectpriority journal
dc.subjectprocollagen type 1 alpha2
dc.subjectrestriction fragment length polymorphism
dc.subjectChromosome Mapping
dc.subjectCollagen
dc.subjectDeoxyribonuclease HpaII
dc.subjectDNA Restriction Enzymes
dc.subjectGene Frequency
dc.subjectGenes, Structural
dc.subjectHuman
dc.subjectPedigree
dc.subjectPolymorphism (Genetics)
dc.subjectSupport, Non-U.S. Gov't
dc.titlePolymorphism of DNA sequence in the human pro α2(I) collagen gene
dc.typeArticle
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