title: Subtyping of the HLA-DQA1 locus and independence testing with PM and STR/VNTR loci.
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 DIS80 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.
authors.affiliation: Forensic Science Research and Training Center, FBI Laboratory, FBI Academy, Quantico, VA, USA.
authors.forename: B
authors.initials: B
authors.lastname: Budowle
authors.forename: B W
authors.initials: BW
authors.lastname: Koons
authors.forename: T R
authors.initials: TR
authors.lastname: Moretti
mesh_terms: D000483:Alleles; D016172:DNA Fingerprinting / Q000379:methods; D005784:Gene Amplification; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D005936:Glucans / Q000145:classification / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000145:classification / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D006650:Histocompatibility Testing; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction; D044469:Racial Groups / Q000235:genetics; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014481:United States
chemical_list: D005819:Genetic Markers; D005936:Glucans; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; C042659:hexa(beta-glucopyranosyl)glucitol