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PMID: 8317493 Published · ppublish English Journal Article

Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations.

American journal of human genetics ·Vol. 53 ·No. 1 ·1993-07-00 ·Pages 279-86

Urquhart A, Gill P

Abstract

We have analyzed the human involucrin gene in 41 British African-Caribbeans and 37 British white Caucasians by tandem-repeat internal mapping and DNA sequencing. A point mutation (i.e., Bc) in the last B repeat unit was found in 98.6% of British white Caucasians and in 52.4% of British African-Caribbeans. The distribution of repeat patterns was also different between the two populations. Nine previously unreported repeat pattern alleles, 4 with and 5 without the Bc repeat, have been found, increasing the range of variation in humans to 15 reported repeat patterns, 6 with and 9 without the Caucasian mutation. Three further sequence variations, each occurring in a single individual, were found. The evolutionary significance of variation in the human involucrin gene is discussed.

MeSH Terms
Alleles Amino Acid Sequence Base Sequence Blacks/genetics DNA Heterozygote Humans Molecular Sequence Data Point Mutation Polymorphism, Genetic Protein Precursors/genetics Repetitive Sequences, Nucleic Acid Whites/genetics
Chemicals
Protein Precursors involucrin DNA
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Urquhart A
Central Research and Support Establishment, Forensic Science Service, Reading, England.
Gill P
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1993-07-00
Pages
279-86
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1682218
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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