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
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
All published and unpublished gene frequency data for the PCR-based loci HL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.