World population data for the HLA-DQA1, PM (R) and D1S80 loci with least and most common profile frequencies for combinations of loci estimated following NRC II guidelines

Citation
Bl. Peterson et al., World population data for the HLA-DQA1, PM (R) and D1S80 loci with least and most common profile frequencies for combinations of loci estimated following NRC II guidelines, J FOREN SCI, 45(1), 2000, pp. 118-146
Citations number
202
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
JOURNAL OF FORENSIC SCIENCES
ISSN journal
00221198 → ACNP
Volume
45
Issue
1
Year of publication
2000
Pages
118 - 146
Database
ISI
SICI code
0022-1198(200001)45:1<118:WPDFTH>2.0.ZU;2-Y
Abstract
All published and unpublished gene frequency data for the PCR-based loci HL A-DQA1, LDLR, GYPA, HBGG, D7S8, GC, and D1S80 that could be located are pre sented in summary tables. These gene frequencies provide the data necessary for estimating probabilities of chance match according to NRC II guideline s for any DNA profile that includes any combination of these loci for any o f the populations, To illustrate the range of polymorphism for combined locus profiles, least and most common profile frequencies were estimated following NRC Il guideli nes for: the PM loci for all populations for which PM data were available; and for combinations of HLA-DQA1/PM, HLA-DQA1/D1S80, PM/D1S80, and HLA-DQA1 /PM/D1S80 for populations for which data were available for the relevant co mbinations. The profile frequencies were calculated at a values of zero and 0.01. Minimum allele frequencies (MAF) were calculated, and are shown, for each data set for which the MAF was greater than the lowest observed allel e frequency. Least common profile frequencies were calculated using MAF in those cases to illustrate a conservative estimate. The effect of using MAF versus lowest observed allele frequency in estimating least common profile frequencies is briefly illustrated as well. We finally show that aggregate U.S. gene frequency data for the classical M N and GC polymorphisms for both Caucasian and African-American populations is fully in accord with the DNA-based gene frequency data obtained from PM( R) reverse dot-blot strips for GYPA and GC, respectively.