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