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

Journal Article · Thu Jul 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5941279

Urquhart, A; Gill, P ^[1]

---

1. Forensic Science Service, Reading (Germany)

The authors 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., B[sub c]) 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 B[sub c] 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. 30 refs., 4 figs., 2 tabs.

• OSTI ID: 5941279
• Journal Information: American Journal of Human Genetics; (United States), Vol. 53:1; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
EPIDERMIS
CHEMICAL COMPOSITION
GENES
DNA SEQUENCING
HUMAN POPULATIONS
GENETIC VARIABILITY
MEMBRANE PROTEINS
GENE MUTATIONS
BIOLOGICAL EVOLUTION
KERATIN
RFLPS
ANIMAL TISSUES
BIOLOGICAL VARIABILITY
BODY
EPITHELIUM
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
POPULATIONS
PROTEINS
SCLEROPROTEINS
SKIN
STRUCTURAL CHEMICAL ANALYSIS
TISSUES
550400* - Genetics