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First‐trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases
Author(s) -
Gasparini Paolo,
Novelli Giuseppe,
Savoia Anna,
Dallapiccola Bruno,
Pignatti Pier Franco
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090508
Subject(s) - polymerase chain reaction , prenatal diagnosis , restriction fragment length polymorphism , southern blot , cystic fibrosis , locus (genetics) , microbiology and biotechnology , first trimester , biology , medicine , dna , genetics , pregnancy , fetus , gene
Eight pregnancies at risk for cystic fibrosis have been monitored by first‐trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM 19. In two cases, the region detected by CS·7, another DNA probe tightly linked to the CF locus, was also examined. The results of the PCR determinations were confirmed using the Southern blotting procedure, by segregation analysis of restriction fragment length polymorphisms (RFLPs) relative to XV‐2c, J3·11, metH, metD, and KM19 probes.