DNA diagnosis of human genetic individuality

Pena, Sérgio Danilo Junho; Prado, Vânia F.; Epplen, Jörg T.

doi:10.1007/bf00195140

Cited by 13 publications

(8 citation statements)

References 84 publications

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“…15). We reasoned that examination of microsatellite markers from the T. cruzi genome should likewise provide genetic information about the parasite.…”

Section: And 7)mentioning

confidence: 99%

Probing the genetic population structure of Trypanosoma cruzi with polymorphic microsatellites

Oliveira

Broude

Macedo

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

168

142

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We describe here the identification of eight polymorphic microsatellite loci with (CA) n repeats in the Trypanosoma cruzi genome based on the affinity capture of fragments using biotinylated (CA) 12 attached to streptavidincoated magnetic beads. The presence of two peaks in PCR amplification products from individual clones confirmed that T. cruzi is diploid. Hardy-Weinberg and linkage disequilibrium analyses suggested that sexual reproduction is rare or absent and that the population structure is clonal. Several strains, especially those isolated from nonhuman sources, showed more than two alleles in many loci demonstrating that they were multiclonal. The phylogenetic analysis of T. cruzi based on microsatellites revealed a great genetic distance among strains, although the strain dispersion profile in the Wagner network was in general agreement with the species dimorphism found by PCR amplification of the divergent region of the rRNA 24S␣ gene.

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“…15). We reasoned that examination of microsatellite markers from the T. cruzi genome should likewise provide genetic information about the parasite.…”

Section: And 7)mentioning

confidence: 99%

Probing the genetic population structure of Trypanosoma cruzi with polymorphic microsatellites

Oliveira

Broude

Macedo

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

168

142

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“…This insertion is supposed to have happened in an ancestral human Y chromosome in Africa (Hammer 1994). Alu insertions are known to be unique molecular events and there is no known mechanism for reversibility by specific removal (discussed in Pena et al 1995a). Thus, as an initial analytical step, it makes sense to divide the world's Y chromosomes into two large groups, YAP + and YAP- (Fig.…”

Section: Genome Research @ 607mentioning

confidence: 99%

Worldwide distribution of human Y-chromosome haplotypes.

Santos¹,

Bianchi²,

Pena³

1996

Genome Res.

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We surveyed several human populations worldwide with three PCR-based polymorphisms located in the human Y chromosome: the alphoid heteroduplex [c~h} polymorphic system, the DYSI9 microsatellke locus, and a polymorphic A/u insertion {YAP}. By typing with the former two polymorphisms {oLh and DYSIg} we found 46 different haplotypes in 364 males from several populations worldwide. There were significant geographic differences in the distribution of the haplotypes, several of which were seen in only one population and can be used as populational markers in future surveys. The haplotypic diversity in major ethnic groups revealed high levels in Greater Asians, followed by Africans and Caucasians, and a very low diversity was seen in Amerindians. The discrimination probability of such haplotypes for a random sample of Brazilian Caucasians was 0.82, suggesting great potential usefulness in forensic studies. The parsimonious relationship between different c~h types and the addition of the YAP polymorphism data allowed the construction of an informative picture of the origin and evolution of the c~h polymorphism. The DYSI9 allele diversity related to each c~h type allowed a crude estimation of the antiquity of many oLh types. These ancient oLh types were present in different populations suggesting a common ancestor that could antedate the first out-of-Africa migrations.

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“…Because they are easily studied using PCR-based procedures, microsatellites have become markers of choice for genetic inferences in forensic sciences, paternity testing, molecular ecology, molecular taxonomy, and evolutionary reconstructions [Bowcock et al, 1994;Butler, 2001;Jin and Chakraborty, 1995;Pena et al, 1995;Queller et al, 1993]. To validate the genetic models behind such inferences, it is important to try to understand in detail the mechanisms that cause mutations in microsatellites and the rate at which they occur.…”

Section: Introductionmentioning

confidence: 98%

The mutational spectrum of human autosomal tetranucleotide microsatellites

Leopoldino

Pena

2002

Hum. Mutat.

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We studied by multiplex amplification and single-run electrophoretic analysis 10 microsatellite loci, composed of nine tetranucleotide-repeats (D1S1612, D3S2387, D4S2431, D5S2501, D10S1237, D15S657, D16S2622, D18S1270, and IFNAR-ALU) and one trinucleotide repeat (D2S1353). After elimination of proven null allele events involving D1S1612 and D5S2501 and of all data of D3S2387, in which we suspected but could not prove the occurrence of null alleles, we were left with nine loci, encompassing 24,224 meioses and 23 mutations. Twenty-two of the mutations (96%) were single-step events. Moreover, 18 of the mutations were paternal, four were maternal, and one was indeterminate. There was no significant difference between the number of additions and deletions in the mutants. Our findings are compatible with a simple model in which tetranucleotide microsatellites mutate primarily in paternal germinative cells by DNA slippage, such that the vast majority of mutations are equiprobable additions or deletions of a single-repeat unit. By combining the data from our tetranucleotide loci with literature information of highly and lowly mutable microsatellites, we observed a very highly significant correlation between mutation rate and the geometric mean of the length of the longest perfect repeat region (LRPR), compatible with a power or exponential relationship. The variation of the length of the LRPR explained as much as 80% of the variance of the mutation rate of autosomal tetranucleotide microsatellites.

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DNA diagnosis of human genetic individuality

Cited by 13 publications

References 84 publications

Probing the genetic population structure of Trypanosoma cruzi with polymorphic microsatellites

Probing the genetic population structure of Trypanosoma cruzi with polymorphic microsatellites

Worldwide distribution of human Y-chromosome haplotypes.

The mutational spectrum of human autosomal tetranucleotide microsatellites

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