TECHNICAL NOTE Maria Sol Rodriguez-Calvo, 1 Ph.D.; Susana Bellas, l B.Sc.; Lufs Souto, 2 B.Sc.; Conceicao Vide, 2 B.Sc.; Emilio Valverde, 1 Ph.D.; and Angel Carracedo, 1 Ph.D. Population Data on the Loci LDLR, GYPA, HBGG, D7S8, and GC in Three Southwest European Populations REFERENCE: Rodriguez-Calvo, M. S., Bellas, S., Souto, L., Vide, C., Valverde, E., and Carracedo, A., 'Population Data on the Loci LDLR, GYPA, HBGG, D7S8, and GC in Three Southwest European Populations," Journal of Forensic Sciences, JFSCA, Vol. 41, No. 2, March 1996, pp. 291-296. ABSTRACT: Three Southwest European populations: Galicia (NW Spain), a mixed Spanish population from the rest of Spain (outside Galicia), and a population sample from the Coimbm area (Cenlre of Portugal) have been studied for the Low Density Lipopro- rein Receptor (LDLR), Glycophorin A (GYPA), Hemoglobin G Gammaglobin (I-IBGG), D7S8 and Group Specific Component (GC). The allele and genotype frequencies found have been com- pared with other previously published data. All loci meet Hardy- Weinberg expectations in the three sampled populations. There was no evidence of association in any of the three population samples, between the five loci studied. No significant differences were found with Caucasian populations, nevertheless, significant differences were observed between our three population studies and the US SW Hispanic and African populations. The AmpliType PM DNA test greatly facilitates DNA testing in forensic laboratories, provid- ing quick results and a good discrimination power from a single test. KEYWORDS: forensic science, population studies One of the most important developments in the field of human identity testing is the use of DNA typing to analyze biological evidence. Although Variable Numbers of Tamdem Repeat Polymorphisms (VNTRs) are highly informative, their analysis as Restriction Frag- ment Length Polymorphisms (RFLPs) requires a relatively long time to carry out and also has other limitations such as its lower sensitivity and its difficulty in typing highly degraded samples. By using the Polymerase Chain Reaction (PCR) these disadvan- tages are overcome. PCR also has the additional advantage of being able to distinguish discrete alleles at each polymorphic locus, thereby avoiding the problems of database construction, the estima- tion of gene frequencies and the statistical evaluation of the results. The number of highly polymorphic systems which can be ana- lyzed using PCR is continuously being increased, not only in coding DNA but mainly in repetitive DNA. 1Institute of Legal Medicine, University of Santiago de Compostela, Spain. 2Institute of Legal Medicine. Coimbra. Portugal. Received for publication 1 May 1995; revised manuscript received 27 July 1995, accepted for publication 31 July 1995. Several genetic loci, that are amenable to PCR, now can be analyzed using commercially available kits. The AmpliType| HLA DQct FCR Amplification and Typing kit (Perkin-Elmer) was the first PCR-based test applied to forensic casework analysis (1-3). Six alleles are able to be detected using the reverse dot blot format and sequence specific oligonucleotide (SSO) probes. The AmpliType PM| PCR Amplification and Typing kit (Per- kin-Elmer) is the second commercially available product for foren- sic casework analysis based on the same reverse dot blot typing technology (4). With this kit, the loci HLADQA1, LDLR (Low Density Lipoprotein Receptor) (5), GYPA (Glycophorin A) (6), HBGG (Hemoglobin G Gammaglobin) (7), D7S8 (8,9) and GC (Group Specific Component) (10) are amplified in a multiplex fashion. The last five loci listed are typed simultaneously in a single reverse dot blot strip containing immobilized allele specific probes; HLADQA1 must be typed in a separate strip. The chromo- somal locations, PCR product size and number of alleles for each loci are given in Table 1. This paper presents data on the frequencies of these markers, except HLADQA1, in three populations: from Galicia (NW Spain), a mixed Spanish population from the rest of Spain (outside Galicia), and a population sample from the Coimbra area (Centre of Portu- gal). Additional aims were to test whether or not the allele frequen- cies conform to Hardy-Weinberg expectations, to compare the results obtained with other population data and to obtain some statistical parameters of medico-legal interest such as the allelic diversity value, the power of discrimination and the chance of exclusion in paternity cases. This paper also investigates the usefulness of the five loci LDLR, GYPA, HBGG, D7S8, and GC included in the AmpliType PM| TABLE 1--AmpliType| PM genetic marker characteristics. Locus Chromosome PCR product N~ (bp) Alleles DQA1 6 239/242 6 LDLR 19 214 2 GYPA 4 190 2 HBGG 11 172 3 D7S8 7 151 2 GC 4 138 3 291 Copyright © 1996 by ASTM International