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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1987-9-18
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pubmed:abstractText |
Forty-seven Chinese suffering from beta thalassemia major and their parents were studied to establish linkage of the beta thal and beta A genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3' to the beta globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude beta thalassemia major. Using four restriction sites (Hinc II psi beta, Ava II beta, Hind III beta, and BamH I beta), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive beta thalassemia prenatal diagnosis is also reported.
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pubmed:grant | |
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 |
Aug
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pubmed:issn |
0361-8609
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
409-15
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:2887108-China,
pubmed-meshheading:2887108-DNA,
pubmed-meshheading:2887108-Female,
pubmed-meshheading:2887108-Fetal Blood,
pubmed-meshheading:2887108-Humans,
pubmed-meshheading:2887108-Male,
pubmed-meshheading:2887108-Pedigree,
pubmed-meshheading:2887108-Polymorphism, Genetic,
pubmed-meshheading:2887108-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2887108-Pregnancy,
pubmed-meshheading:2887108-Prenatal Diagnosis,
pubmed-meshheading:2887108-Thalassemia
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pubmed:year |
1987
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pubmed:articleTitle |
Application of DNA polymorphisms for prenatal diagnosis of beta thalassemia in Chinese.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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