title: Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations.
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.
authors.affiliation: Central Research and Support Establishment, Forensic Science Service, Reading, England.
authors.forename: A
authors.initials: A
authors.lastname: Urquhart
authors.forename: P
authors.initials: P
authors.lastname: Gill
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D004247:DNA; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011498:Protein Precursors / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D044465:White People / Q000235:genetics
chemical_list: D011498:Protein Precursors; C032253:involucrin; D004247:DNA