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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1979-7-28
|
| pubmed:abstractText |
Hb P-Nilotic which is produced by a hybrid of beta and delta genes was found in several members of a Sudanese family, three of whom had an associated beta-thalassemia. Chemical analyses confirmed the crossover between positions 22 and 50 of the beta delta P chain. The Hb p-Nilotic heterozygote had completely normal hematology, but the patients with the Hb P-Nilotic--beta-thalassemia condition had moderately severe clinical and hematological abnormalities which were considerably more pronounced than those in the father who had a beta-thalassemia heterozygosity. The absolute cellular contents of normal and abnormal non-alpha chains in these subjects and the results of in vitro chain synthesis analyses suggested that the thalassemia gene in this family is of the beta0 type and that the beta A gene which is present in cis to the beta delta P gene is incapable of being stimulated when the beta0-thalassemia determinant is present in trans. It is proposed that a number of recombination events produced a beta delta P hydrid gene with duplication of the beta A gene in cis as well as a change in an untranscribed strand of DNA which controls the expression of the beta A gene.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0022-2143
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
93
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
973-82
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading | |
| pubmed:year |
1979
|
| pubmed:articleTitle |
Hb P-Nilotic in association with beta0-thalassemia: cis-mutation of a hemoglobin betaA chain regulatory determinant?
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|