Population Genetic Characteristics of the STR Loci D21S11 and FGA in Eight Diverse Human Populations

• Published in: Human biology 1998-10, Vol.70 (5), p.813-844
• Main Authors: FRÉGEAU, CHANTAL J., TAN-SIEW, WAI FUN, YAP, KIAT HOON, CARMODY, GEORGE R., CHOW, SHUI TSE, FOURNEY, RON M.
• Format: Article
• Language: English
• Subjects: Alleles; Biodiversity; Canada; DNA; Ethnic Groups - genetics; European Continental Ancestry Group - genetics; Fibrinogen - genetics; Forensic genetics; Gene Frequency; Genetic loci; Genetics; Hardy Weinberg law; Human genetics; Human population genetics; Human populations; Humans; Indians, North American - genetics; Likelihood Functions; Microsatellite Repeats; Polymorphism, Genetic - genetics; Population; Population genetics; Singapore; White people
• ISSN: 0018-7143; 1534-6617

A highly polymorphic multiplex short tandem repeat (STR) system composed of D21S11, FGA, and the sex-typing system amelogenin (AMG) has been used to investigate alíele frequency distributions in two Canadian Caucasian samples (British Columbia and Alberta), three Canadian aboriginal populations (Coastal Salishans from British Columbia, Ojibwa from northern Ontario, and Cree from Saskatchewan), and three ethnic groups from Singapore (Chinese, Malays, and Asian Indians). Using the automated fluorescence detection approach on an ABD 373A DNA Sequencer, we distinguished 20 D21S11 and 22 FGA alleleswith a nearly equal representation of two-and four-base variants. An overlap in alíele sizes for both STR loci across populations was observed, but frequency differences were noted. Statistical analysis revealed that (1) both D21S11 and FGA loci conform to Hardy-Weinberg equilibrium in all eight surveyed populations based on five different tests and (2) both STR loci are in linkage equilibrium. Results from the 2 × N contingency table exact tests for population differentiation demonstrated that the Canadian samples from two different provinces were not distinguishable from one another at either STR locus and therefore could be combined to form one Caucasian group. Likewise, Chinese and Malays from Singapore did not show significant differences at either STR locus. In contrast, all other examined populations exhibited differences deemed statistically significant. As a complement to our study, we compared D21S11 alíele frequency distributions in 21 worldwide populations and FGA alíele frequency distributions in 14 populations. Many aallelesever previously reported in worldwide populations were identified in Canadian aboriginal and Asian samples from this study. Twenty-four D21S11 and 29 FGA alallelesre distinguished in worldwide groups. Interesting similarities in allele frequency distribution patterns across populations suggest that the STR polymorphism at these loci predates the geographic dispersal of ancestral human populations. This study further demonstrates the utility of highly informative STR loci such as D21S11 and FGA in human population evolutionary history and in forensic medicine.