title: Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal.
abstract: The genotyping of two population samples from Galicia and northern Portugal was performed for nine STR loci using a single multiplex reaction with the AmpF/STR Profiler Plus PCR amplification kit which co-amplifies the systems D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and the XY homologous gene amelogenin. Allele frequencies for these nine tetranucleotide repeat markers were calculated and no significant differences were observed when comparing these two populations. Conformity with Hardy-Weinberg equilibrium proportions was good for all systems in both samples. The combined power of exclusion was 99.981% and 99.980% in Galicia and northern Portugal, respectively and the combined power of discrimination was greater than 99.999%. Segregation analysis of all loci detected two incompatibilities, one in D3S1358 (out of 112 meioses) and another in D7S820 (out of 104 meioses). Both could be explained by single-step mutations. In general co-amplification was good except for some relatively degraded samples in which poor amplification was observed for the largest STRs. Nevertheless the system is technically robust even when small amounts of template DNA are used and in the addition is highly informative and time-saving. However, caution should be taken in the interpretation of profiles in degraded samples and the apparently high mutation rate of D3S1358 and D7S820 should also be kept in mind.
authors.affiliation: Instituto de Patologia e Imunologia da Universidade do Porto, Rua Dr. Roberto Frias, 4200 Porto, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Gusmão
authors.forename: P
authors.initials: P
authors.lastname: Sánchez-Diz
authors.forename: C
authors.initials: C
authors.lastname: Alves
authors.forename: M V
authors.initials: MV
authors.lastname: Lareu
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: A
authors.initials: A
authors.lastname: Amorim
mesh_terms: D000328:Adult; D016172:DNA Fingerprinting; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010334:Paternity; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D011174:Portugal; D012680:Sensitivity and Specificity; D013030:Spain; D020080:Tandem Repeat Sequences / Q000235:genetics*