Ancestral origin of variation in the triosephosphate isomerase gene promoter
Hum Genet
; 104(6): 486-91, Jun. 1999.
Artigo
em Inglês
| MedCarib
| ID: med-1317
Biblioteca responsável:
JM3.1
Localização: JM3.1;
ABSTRACT
A high frequency of nucleotide substitutions -5A/G, -8G/A, -24T/G in the triosephosphate isomerase (TPI) gene promoter has been demonstrated in African-Americans. The biological significance of these promoter variants, two of which, -8G/A and -24T/G, occur within regulatory elements essential for transcription, is controversial. The geographical distribution and frequency of allelic variation in the TPI promoter was determined in 378 unrelated normal subjects from Sub-Saharan African (n = 103), Caribbean (n = 26), Northern European (n = 57), Mediterranean (n = 55), Middle Eastern (n = 42), Asian Indian (n = 48) and Oriental (n = 47) populations. Five haplotypes were identified the common haplotype, -5A-8G-24T, -5G, -8A, -5G-8A, and -5G-8A-24G. All, with the exception of the -8A haplotype, were present in geographically dispersed populations. The -5G allele, which was found at varying frequency in the African, Caribbean and Oriental populations. Phylogenetic comparison suggests this may represent the ancestral promoter haplotype. Homozygosity for the -5G-8A haplotype identified in four subjects confirms that these variants are not responsible for a null allele as formerly postulated. Linkage disequilibrium between related TPI promoter haplotypes, -5G, -5G-8A and -5G-8A-24G, and a single nucleotide polymorphism at nt2262 of the TPI gene supports a single ancestral origin for these mutations which preceeds the separation of African populations.(Au)
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Base de dados:
MedCarib
Assunto principal:
Triose-Fosfato Isomerase
/
Variação Genética
/
Regiões Promotoras Genéticas
/
Evolução Molecular
Limite:
Humanos
País/Região como assunto:
África
/
Ásia
/
Europa
Idioma:
Inglês
Revista:
Hum Genet
Ano de publicação:
1999
Tipo de documento:
Artigo