Linked Life Data

2872515

Source:http://linkedlifedata.com/resource/pubmed/id/2872515

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8495
pubmed:dateCreated
1986-7-18
pubmed:abstractText
Linkage analysis with cloned gene probes has shown that the mutation causing cystic fibrosis is located in the middle of the long arm of chromosome 7. First-trimester diagnosis of cystic fibrosis is reported in four informative families and second-trimester diagnosis in one family with fetal DNA prepared from chorionic villi, hybridised with the tightly linked DNA probes, pJ3.11 and met. Risk calculations show that the expected false-negative and false-positive rates are approximately 2% and 6%, respectively, for typical nuclear families with one affected living child. Existing probes are sufficiently informative to allow full diagnosis in about two-thirds of couples presenting with at least one affected child. In half of the remainder, the inheritance of one parental mutant chromosome can be deduced.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
21
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
1402-5
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't