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

作者: Martin Farrall , CharlesH. Rodeck , Philip Stanier , Willi Lissens , Eila Watson

DOI: 10.1016/S0140-6736(86)91553-9

关键词:

摘要: Linkage analysis with cloned gene probes has shown that the mutation causing cystic fibrosis is located in middle of long arm chromosome 7. First-trimester diagnosis reported four informative families and second-trimester one family fetal DNA prepared from chorionic villi, hybridised tightly linked probes, pJ3.11 met. Risk calculations show expected false-negative false-positive rates are approximately 2% 6%, respectively, for typical nuclear affected living child. Existing sufficiently to allow full about two-thirds couples presenting at least In half remainder, inheritance parental mutant can be deduced.

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