Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1991-5-2
pubmed:abstractText
Prenatal diagnosis of thalassemia and sickle cell anemia using DNA analysis has been performed in Israel since 1982. Until recently the tests involved analysis of polymorphic markers linked to the beta-globulin gene (RFLP). This method is not suitable for many of the families at risk. The recently developed technique of gene amplification in vitro (PCR) facilitates direct identification of the genetic lesions (mutations) using minimal amounts of DNA. The diagnosis is rapid, reliable and unambiguous and can be made early in pregnancy. Our experience in prenatal diagnosis during the past year is reported. Of 14 diagnoses, 13 were made by direct identification of mutations following PCR.
pubmed:language
heb
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0017-7768
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
120
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
57-60
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
[Prenatal diagnosis of thalassemia: identification of mutations in conjunction with gene amplification in vitro].
pubmed:affiliation
Dept. of Hematology, Hadassah-University Hospital, Jerusalem.
pubmed:publicationType
Journal Article, English Abstract