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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1988-7-22
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pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00093,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00094,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00096,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00158,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00159,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00160,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00161,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00162,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00163,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00164,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00165,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00166,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00167,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00168,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00169,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00170,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00171,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00172,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00173,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00174,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00175,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00177,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00178,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/J00179,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/K01239,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/K01890,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/K02544,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M18047,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/M19067,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/X00423
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pubmed:abstractText |
Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled synthetic oligonucleotide probes. The patient had a clinically severe condition; his Hb Lepore-beta-thalassemia was of the beta + type, as about 8-10% of the non-alpha chain was normal beta A. The same T----A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia intermedia with a low level of Hb F (13.1%) and a relatively high beta A chain synthesis. These data are similar to those obtained for other types of beta +-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the beta-globin gene.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0006-291X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
16
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pubmed:volume |
153
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
741-7
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:3382401-Base Sequence,
pubmed-meshheading:3382401-Globins,
pubmed-meshheading:3382401-Humans,
pubmed-meshheading:3382401-Mutation,
pubmed-meshheading:3382401-Promoter Regions, Genetic,
pubmed-meshheading:3382401-Regulatory Sequences, Nucleic Acid,
pubmed-meshheading:3382401-Thalassemia,
pubmed-meshheading:3382401-Transcription, Genetic
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pubmed:year |
1988
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pubmed:articleTitle |
Beta-thalassemia due to a T----A mutation within the ATA box.
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pubmed:affiliation |
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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