Linked Life Data

1974591

Source:http://linkedlifedata.com/resource/pubmed/id/1974591

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1990-9-17
pubmed:abstractText
Hemophilia A is an X-linked recessive single gene disease. If a female is a carrier, her sons have a 50% risk of being affected. Five gravidas, each with a positive family history of hemophilia A, were collected for prenatal diagnosis using DNA analysis on chorionic villi. We used two closely linked extragenic DNA markers, St14 and DX13, and three restriction enzymes, TaqI, MspI, and BglII, to study four restriction fragment length polymorphisms in the Xq28 region. From family analysis, haplotypes were constructed to track the inheritance of X-chromosomes. In family 1, the male fetus inherited the X-chromosome from his normal grandfather, thus his probability of being affected was predicted to be less than 5%. In families 2 and 3, the gravidas inherited the maternal X-chromosome with a different haplotype from that of the affected brother or nephew, thus they both have a low probability (less than 5%) of being carriers. In family 4, the gravida and her male fetus inherited the same X-chromosome as her affected brother. With coagulation assay also showing a high probability of the gravida being a carrier, the fetus was at high risk for the disease. On pregnancy termination, fetal plasma analysis confirmed the diagnosis. In family 5, the gravida's mother had homozygous haplotypes, making the distinction between two X-chromosomes impossible. Coagulation assay classified the gravida as a probable carrier.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0929-6646
pubmed:author
pubmed:issnType
Print
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
194-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Prenatal diagnosis of hemophilia A by DNA analysis of chorionic villi.
pubmed:affiliation
Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, R.O.C.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't