Population Genetic Comparisons among Eight Populations using Allele Frequency and Sequence Data from Three Microsatellite Loci

Brinkmann, B.; Sajantila, Antti; Goedde, H. W.; Matsumoto, Hideo; Nishi, Katsuji; Wiegand, Peter

doi:10.1159/000472192

Cited by 62 publications

(45 citation statements)

References 23 publications

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“…There were no individuals classified as Amerindian or Caucasian by phenotype in this commuStudies in an African-descendant isolate 25 Sources: (1) Africans - (Deka et al, 1999;Destro-Bisol et al, 2000;Huguet et al, 1998;Bosh et al, 2001;Gene et al, 2001;Alves et al, 2001;Brinkmann et al, 1996;Brinkmann et al, 1998;Rolf et al, 1998;Wang et al, 2002;Pérez-Lezaun et al, 1997;Yunis et al, 2000;Corte-Real et al, 2000;Dios et al, 1998); (2) Europeans (Pérez- Lezaun et al, 2000;Anjos et al, 2000;Lourdes-Pontes et al, 1998;Asmundo et al, 1998;Santos et al, 1996;Souto et al, 1996, Souto et al, 1998Alves et al, 2001;Pinheiro et al, 1996;Amorim et al, 1996;Pereira et al, 1996;Gusmão et al, 1997;Espinheira et al, 1996;Miranda et al, 1998;Prata et al, 1998) nity. This date on phenotypic ethnic classification is based on facial morphological characteristics and skin color in body regions not exposed to the sun (Azevêdo, 1980).…”

Section: Resultsmentioning

confidence: 95%

Microsatellite studies on an isolated population of African descent in the Brazilian state of Bahia

et al. 2006

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The African descent population of the Bananal community in the Brazilian state of Bahia (BA) was characterized as a genetic isolate and analyzed for some short tandem repeat (STR) microsatellite autosomic polymorphic loci (CSF1PO, TH01, TPOX, F13A1, FESFPS and vWA). These genetic variants were further compared to data obtained from an urban sample from the town of Jequié (BA) regarding demographic and anthropogenetic aspects. The Bananal sample comprised 32 unrelated individuals whereas Jequié was represented by 76 individuals. The Bananal Negroid Phenotypic Index (NPI) was 0.98 and the Negroid Cultural Index (NCI) 0.24. Consanguineous marriages occurred at a frequency of 34.61% and the F value was 0.0126. All six loci studied were in Hardy-Weinberg Equilibrium (p > 0.05). The genotypic and allele frequencies of the CSF1PO and vWA loci were similar. In the Bananal population the genic diversity of the THO1 locus was 66.8% and that of the F13A1 locus was 83.7%. The estimated ethnic racial admixture was 81% African and 19% Amerindian. The multiple correlation coefficient (R 2 ) indicated adequate adaptation (99%). Total genetic variation for the six loci was 82.9% with an index of 6.7% for population subdivision (G ST ' = 0.067). Anthropologic data and results obtained from the allele frequencies of the loci studied are indicative of a genetic isolate in Bananal, reminiscent of the a`quilombo community' (i.e. one founded by run away slaves).

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Section: Resultsmentioning

confidence: 95%

Microsatellite studies on an isolated population of African descent in the Brazilian state of Bahia

et al. 2006

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“…Alleles were grouped according to the previous study of De 3 is referred to as '9.3' in the forensic literature 19 and in this study. Allele and genotype distributions between cases and controls were compared by applying Fisher's exact test.…”

Section: Discussionmentioning

confidence: 99%

Association of TH01 with human longevity revisited

et al. 2011

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The gene tyrosine hydroxylase 1 (TH01) has been suggested as a candidate for human longevity. A previous study has shown an association between longevity and specific alleles of the TH01 short tandem repeat (STR) polymorphism in an Italian population. This STR locus is also widely used in forensic genetics. If the TH01-longevity association could be confirmed in independent samples, this finding would have important ramifications for the use of this polymorphism in a forensic context. In the present study, we sought to replicate the previous association result by investigating 471 long-lived individuals (96-110 years) and 462 younger controls (19-75 years) from Germany. In the analyzed samples, the association between TH01 and longevity was not replicated. However, the obtained TH01 allele frequencies were consistent with published data. We observed considerable differences in the allele distribution between Germans and Italians, in particular with regard to allele 9.3, which displayed a previously undetected decreasing West-East and North-South cline across Europe. The discrepant TH01-longevity association results in Germans and Italians could therefore be due to population-specific effects. This finding highlights the need to take into consideration population genetic data when dealing with association studies.

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“…Since they are associated with some new mutations, we suggest that the number of alleles in the respective founder group was originally much smaller than at present. Reconstruction toward a Gaussian-like profile could have occurred mainly through new mutations (Brinkmann et al, 1996a). Since profile differences between populations in one group are sometimes strong, mutational events could be a major reason.…”

Section: Discussionmentioning

confidence: 99%

“…Although insertions and deletions of repeats have been observed , there seems to be an upper and a lower boundary to this dynamic process, which may be associated with selection mechanisms (Brinkmann et al, 1996a). The upper boundary is obviously common to all systems, whereas the lower boundary for new mutations of consensus alleles seems to be number 15.…”

Section: Discussionmentioning

confidence: 99%