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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8495
|
pubmed:dateCreated |
1986-7-18
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jun
|
pubmed:issn |
0140-6736
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
21
|
pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
1402-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:2872515-Biopsy,
pubmed-meshheading:2872515-Chorionic Villi,
pubmed-meshheading:2872515-Cystic Fibrosis,
pubmed-meshheading:2872515-DNA,
pubmed-meshheading:2872515-False Negative Reactions,
pubmed-meshheading:2872515-False Positive Reactions,
pubmed-meshheading:2872515-Female,
pubmed-meshheading:2872515-Genetic Linkage,
pubmed-meshheading:2872515-Genetic Markers,
pubmed-meshheading:2872515-Genotype,
pubmed-meshheading:2872515-Humans,
pubmed-meshheading:2872515-Pregnancy,
pubmed-meshheading:2872515-Pregnancy Trimester, First,
pubmed-meshheading:2872515-Prenatal Diagnosis
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pubmed:year |
1986
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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
|