TANDEM-REPEAT INTERNAL MAPPING (TRIM) OF THE INVOLUCRIN GENE - REPEATNUMBER AND REPEAT-PATTERN POLYMORPHISM WITHIN A CODING REGION IN HUMAN-POPULATIONS
A. Urquhart et P. Gill, TANDEM-REPEAT INTERNAL MAPPING (TRIM) OF THE INVOLUCRIN GENE - REPEATNUMBER AND REPEAT-PATTERN POLYMORPHISM WITHIN A CODING REGION IN HUMAN-POPULATIONS, American journal of human genetics, 53(1), 1993, pp. 279-286
We have analyzed the human involucrin gene in 41 British African-Carib
beans and 37 British white Caucasians by tandem-repeat internal mappin
g and DNA sequencing. A point mutation (i.e., B(c)) in the last B repe
at unit was found in 98.6% of British white Caucasians and in 52.4% of
British African-Caribbeans. The distribution of repeat patterns was a
lso different between the two populations. Nine previously unreported
repeat pattern alleles, 4 with and 5 without the B(c) repeat, have bee
n found, increasing the range of variation in humans to 15 reported re
peat patterns, 6 with and 9 without the Caucasian mutation. Three furt
her sequence variations, each occurring in a single individual, were f
ound. The evolutionary significance of variation in the human involucr
in gene is discussed.