Details

Autor(en) / Beteiligte

• Farrall, Martin
• Rodeck, CharlesH
• Stanier, Philip
• Lissens, Willi
• Watson, Eila
• Law, Hai-Yang
• Warren, Richard
• Super, Maurice
• Scambler, Peter
• Wainwright, Brandon
• Williamson, Robert

Titel

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

Ist Teil von

• The Lancet (British edition), 1986-06, Vol.327 (8495), p.1402-1405

Ort / Verlag

London: Elsevier Ltd

Erscheinungsjahr

1986

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals Complete

Beschreibungen/Notizen

• 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.