Intra-and inter-population genetic diversity at the HLA-DQA1 locus and their implications for parentage analysis and human identification

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133936

Rivas, F ^[1]; Cerda-Flores, R ^[2]; Zhong, Y ^[3]

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1. Instituto Mexicano del Seguro Social, Guadalajara, MX (United States)
2. Univ. of Texas Houston Health Science Center, Houston, TX (United States)
3. Univ. of Texas Houston Health Science Center, TX (United States); and others

HLA-DQA1 locus, studied by PCR-based sequence specific oligonucleotide probes, is highly polymorphic in all populations thus far studied. From the literature we compiled genotype and allele frequency data at this locus for 87 populations to examine the pattern of intra- and inter- population genetic diversity. In general, allele frequency variations in populations are consistent with their ethno-history, although small isolated populations (e.g. Pacific Islanders) exhibit somewhat disparate variations of allele frequencies. A nested gene diversity analysis of 41 populations, classified into 5 ethnic groups (African, n = 3; Caucasian, n = 18; American Native, n = 3; Asian, n = 8; Pacific Islanders, n = 9) showed that the total gene diversity (80.4%) is largely (95%) due to intra-population variation. Only 3% of the gene diversity is due to inter-population within ethnic group variation, with the remaining 2% due to between ethnic group variation. In terms of average heterozygosity, probability of paternity exlusion, and probability of individual identification, the inter-ethnic group variation is larger than that between poulation samples within the ethnic groups. No significant departure from Hardy-Weinberg expectations of genotype frequencies was observed in any population. With an average heterozygosity of 77% around the world, this locus provides a 57% chance of exclusion of a falsely accused person from paternity, and is able to exclude 91% of individuals for identification purposes. In terms of allele fequencies, the geometric positions of the admixed populations (e.g. African-Americans and American-Hispanics) are consistent with their admixture estimates in their gene pool.

• OSTI ID: 133936
• Report Number(s): CONF-941009--; CNN: Grant GM 41399; Grant GM 45861; Grant NIJ-92-IJ-K024
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA SEQUENCING
GENE MUTATIONS
GENES
GENETIC VARIABILITY
GENOTYPE
HUMAN POPULATIONS
IDENTIFICATION SYSTEMS
MUTATION FREQUENCY
OLIGONUCLEOTIDES
POLYMERASE CHAIN REACTION
PROBES