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Am J Hum Genet. 1993 July; 53(1): 279–286. | PMCID: PMC1682218 |
Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations. A Urquhart and P Gill Central Research and Support Establishment, Forensic Science Service, Reading, England. 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. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. These references are in PubMed. This may not be the complete list of references from this article. - Berardesca E, de Rigal J, Leveque JL, Maibach HI. In vivo biophysical characterization of skin physiological differences in races. Dermatologica. 1991;182(2):89–93. [PubMed]
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