Conserved worldwide linkage disequilibrium in the human factor XI gene.
Genomics
; 70(2): 269-72, 2000 Dec 01.
Article
em En
| MEDLINE
| ID: mdl-11112356
ABSTRACT
We have identified, in four diverse human populations, five common single-nucleotide polymorphisms (SNPs) in the coding region of the gene for the blood coagulation protease factor XI. Each SNP has an allele frequency >5% in at least one population. Three of the SNPs (C472T, A844G, and T1234C), spread out over approximately 10 kb of genomic DNA, are in marked linkage disequilibrium (LD) with one another (P < 10(-4)). Interestingly, haplotypes associated with the linked SNPs are conserved across all populations studied, despite significantly different allele frequencies between populations. The presence of such common, widely dispersed haplotypes could complicate the interpretation of LD studies and emphasizes the need for a better understanding of general patterns of LD to facilitate identification of genes for common disorders.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator XI
/
Desequilíbrio de Ligação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos