Journal Published Online: 01 May 1998
Volume 43, Issue 3

Subtyping of the HLA-DQA1 Locus and Independence Testing with PM and STR/VNTR Loci

CODEN: JFSCAS

Abstract

Allele and genotype frequencies for six loci (HLA-DQA1 and PM loci) were determined in African Americans, United States Caucasians, and Southwestern Hispanics. The data include allele frequencies of the HLA-DQA1 4 subtypes. The HLA-DQA1 4 allele subtyping affords greater power of discrimination in African Americans and Southwestern Hispanics than in Caucasians, due to the relatively lower 4.2/4.3 allele frequency in Caucasians. Based on the exact test, all loci, except the GYPA locus in the African American sample (p = 0.011), meet Hardy-Weinberg expectations. There were two examples of significant departures from expectations of independence between alleles of the HLA-DQA1 and PM loci (HBGG/Gc in African Americans, p = 0.30; LDLR/DQA1 in Caucasians, p = 0.023). The HLA-DQA1 and PM loci also were tested for associations with three STR loci and the D1S80 locus. There were four examples of significant departures from expectations of independence (TPOX/D7S8 and THO1/HBGG in African Americans, p = 0.035 and 0.028, respectively; THO1/LDLR in Caucasians, p = 0.028; and GYPA/D1S80 in Hispanics, p = 0.046). The HLA-DQA1 and PM allele frequency data were compared with previously reported data on other sample populations of the same population categories from our laboratory; the allele frequencies at all loci, except the D7S8 locus in Hispanics (p = 0.028), were statistically similar. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a multiple locus DNA profile in various general United States populations.

Author Information

Budowle, B
Forensic Science Research and Training Center, FBI Laboratory, FBI Academy, Quantico, VA
Koons, BW
Forensic Science Research and Training Center, FBI Laboratory, FBI Academy, Quantico, VA
Moretti, TR
Forensic Science Research and Training Center, FBI Laboratory, FBI Academy, Quantico, VA
Pages: 4
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Stock #: JFS16198J
ISSN: 0022-1198
DOI: 10.1520/JFS16198J