Evidence map›Paper›PMID 21637671›Full record

ArticleGenetics and molecular biology2009

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese.

Claudia C Branco, Paula R Pacheco, Ester Cabrol, Rita Cabral, Astrid M Vicente, Luisa Mota-Vieira

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Article in Genetics and molecular biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Claudia C BrancoMolecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, São Miguel Island, Azores Portugal.
Paula R Pacheco
Ester Cabrol
Rita Cabral
Astrid M Vicente
Luisa Mota-Vieira

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Studies on linkage disequilibrium (LD) across the genome and populations have been used in recent years with the main objective of improving gene mapping of complex traits. Here, we characterize the patterns of genetic diversity of HLA loci and evaluate LD (D') extent in three genomic regions: Xq13.3, NRY and HLA. In addition, we examine the distribution of DXS1225-DXS8082 haplotype diversity in Azoreans and mainland Portuguese. Allele distribution has demonstrated that the São Miguel population is genetically very diverse; haplotype analysis revealed 100% discriminatory power for X- and Y-markers and 94.3% for HLA markers. Standardized multiallelic D' in these three genomic regions shows values lower than 0.33, thereby suggesting there is no extensive LD in the São Miguel population. Data regarding the distribution of DXS1225-DXS8082 haplotypes indicate that there are no significant differences among all the populations studied, (Azorean geographical groups, the Azores archipelago and mainland Portugal). Moreover, in these as well as in other European populations, the most frequent DXS1225-DXS8082 haplotype is 210-219. Even though São Miguel islanders and Azoreans do not constitute isolated populations and show LD for only very short physical distances, certain characteristics, such as the absence of genetic structure, the same environment and the possibility of constructing extensive pedigrees through church and civil records, offer an opportunity for dissecting the genetic background of complex diseases in these populations.

Indexed as

AzoresHLAlinkage disequilibriumSão MiguelX-chromosomeY-chromosome

Identifiers

PMID21637671
PMCPMC3036928

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