First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

P. Gasparini; G. Novelli; A. Savoia; B. Dallapiccola; P. F. Pignatti

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

P. Gasparini, G. Novelli, A. Savoia, B. Dallapiccola, P. F. Pignatti

Research output: Contribution to journal › Article › peer-review

Abstract

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 KM19. 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.

Original language	English
Pages (from-to)	349-355
Number of pages	7
Journal	Prenatal Diagnosis
Volume	9
Issue number	5
Publication status	Published - 1989

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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abstract = "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 KM19. 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.",

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AU - Gasparini, P.

AU - Novelli, G.

AU - Savoia, A.

AU - Dallapiccola, B.

AU - Pignatti, P. F.

PY - 1989

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AB - 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 KM19. 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.

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