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

Brianna L. Peterson, Bing Su, Ranajit Chakraborty, Bruce Budowle, R. E. Gaensslen

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

All published and unpublished gene frequency data for the PCR-based loci HLA-DQA 1, LDLR, GYPA, HBGG, D7S8, GC, and D1S80 that could be located are presented in summary tables. These gene frequencies provide the data necessary for estimating probabilities of chance match according to NRC II guidelines for any DNA profile that includes any combination of these loci for any of the populations. To illustrate the range of polymorphism for combined locus profiles, least and most common profile frequencies were estimated following NRC II guidelines 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 combinations. The profile frequencies were calculated at θ 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 allele 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 MN and GC polymorphisms for both Caucasian and African- American populations is fully in accord with the DNA-based gene frequency data obtained from PMθ reverse dot-blot strips for GYPA and GC, respectively.

Original languageEnglish
Pages (from-to)118-146
Number of pages29
JournalJournal of Forensic Sciences
Volume45
Issue number1
DOIs
StatePublished - Jan 2000

Keywords

  • D1S80
  • D7S8
  • DNA typing
  • Forensic science
  • GC
  • GYPA
  • HBGG
  • HLA-DQA1
  • LDLR
  • MN blood group system
  • Minimum allele frequency
  • NRC recommendations
  • Population data
  • Population genetics
  • World

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