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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1997-5-12
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pubmed:abstractText |
B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean alleles [five codon 39 C-->T; two IVS1:1 G-->A; two IVS1:5 G-->A; three IVS1:110 G(A; one codon 11 (-T) and three (deltabeta)zero-thal]; the remaining four were linked to three rare alleles (two -28 A-->C and one each: -87 C-->T and initiation codon ATG-->GTG). Among the 87 beta(A) chromosomes, 17 different 5' haplotypes with frequencies for 1, 3, 2 and 5 of 39.0%, 17. 2%, 9.2% and 6.9%, respectively, were observed. The beta-haplotype analysis showed that 13 out of 16 Mediterranean chromosomes could easily be explained by gene migration; however, one codon 39 associated with haplotype 4 (----+ +-), one IVS1:1 with haplotype 1(+----++) and one IVS1:5 G-->A, may represent separate mutational events. Analysis of the rare alleles showed that the -28 A-->C mutation was associated with the commonest beta(A) haplotype in Mexican mestizos, Mediterraneans and the total world population; therefore an independent origin cannot be ruled out. The -87 C-->T and initiation codon ATG-->GTG were found with beta-haplotypes different from the reported ones, suggesting an indigenous origin.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
99
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
498-500
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9099840-Alleles,
pubmed-meshheading:9099840-European Continental Ancestry Group,
pubmed-meshheading:9099840-Gene Frequency,
pubmed-meshheading:9099840-Globins,
pubmed-meshheading:9099840-Haplotypes,
pubmed-meshheading:9099840-Humans,
pubmed-meshheading:9099840-Indians, North American,
pubmed-meshheading:9099840-Mexico,
pubmed-meshheading:9099840-Mutation,
pubmed-meshheading:9099840-beta-Thalassemia
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pubmed:year |
1997
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pubmed:articleTitle |
Beta-thalassemia and beta[A] globin gene haplotypes in Mexican mestizos.
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pubmed:affiliation |
División de Genética, Centro de Investigacion Biomédica de Occidente,IMSS, Guadalajara, Jal., Mexico.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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