Linked Life Data

1810022

Source:http://linkedlifedata.com/resource/pubmed/id/1810022

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1992-5-27
pubmed:abstractText
Haemophilia A is an X-linked disorder affecting 1.7/10,000 males. Carrier detection in females and prenatal diagnosis of male foetuses is greatly improved by DNA-based diagnosis. This study describes the use of the polymerase chain reaction (PCR) and allele-specific oligonucleotides (ASO) in a clinical study comprising 190 individuals in 27 families. Prenatal diagnosis was performed in eight cases. Of three male fetuses, two were found to be affected and one unaffected. It is shown that 62% of women in the Swedish population are heterozygous for the intragenic BclI or XbaI polymorphisms and consequently a majority of them (53%) can be analysed in the PCR-based format. Using three intragenic polymorphisms, a combined heterozygosity of 64% was recorded in the females. If the extragenic loci DXS52 and DXS15 were used in addition, 97% of the women could be counselled by DNA-analysis. Our study demonstrates the usefulness of PCR-based analysis of the BclI- and the XbaI-polymorphisms in genetic counselling. The counselling of women with conflicting results between coagulation data and DNA-based linkage analysis is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0036-5513
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
625-33
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Evaluation of DNA-based diagnosis for haemophilia A.
pubmed:affiliation
Department of Medical Genetics, University of Uppsala, Sweden.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't