rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
|
pubmed:dateCreated |
1986-7-3
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pubmed:abstractText |
The molecular basis for the hereditary persistence of fetal hemoglobin (HPFH) phenotype was studied in a Chinese individual who was heterozygous for a nondeletion form of A gamma-HPFH. Both allelic A gamma-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One A gamma gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now ben found in unrelated individuals with the A gamma-HPFH phenotype from Italy, Sardinia, and China, suggesting that it may have arisen independently. The implications of this mutation for models of fetal globin gene switching are discussed.
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pubmed:grant |
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jun
|
pubmed:issn |
0006-4971
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1777-9
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:2423160-Adult,
pubmed-meshheading:2423160-Base Sequence,
pubmed-meshheading:2423160-Cytidine,
pubmed-meshheading:2423160-DNA,
pubmed-meshheading:2423160-DNA Restriction Enzymes,
pubmed-meshheading:2423160-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:2423160-Fetal Hemoglobin,
pubmed-meshheading:2423160-Globins,
pubmed-meshheading:2423160-Heterozygote,
pubmed-meshheading:2423160-Humans,
pubmed-meshheading:2423160-Mutation,
pubmed-meshheading:2423160-Polymorphism, Genetic,
pubmed-meshheading:2423160-Promoter Regions, Genetic,
pubmed-meshheading:2423160-Thymidine
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pubmed:year |
1986
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pubmed:articleTitle |
Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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