Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis
Open Access
- 1 February 1990
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 322 (5) , 291-296
- https://doi.org/10.1056/nejm199002013220503
Abstract
The cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. We used the polymerase chain reaction and hybridization with allele-specific oligonucleotides to analyze the presence or absence of this mutation on 439 cystic fibrosis chromosomes and 433 normal chromosomes from non-Ashkenazic white families.This publication has 19 references indexed in Scilit:
- Identification of the Cystic Fibrosis Gene: Chromosome Walking and JumpingScience, 1989
- Identification of the Cystic Fibrosis Gene: Genetic AnalysisScience, 1989
- Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNAScience, 1989
- Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 riskAmerican Journal of Medical Genetics, 1989
- Patterns of polymorphism and linkage disequilibrium for cystic fibrosisGenomics, 1987
- A candidate for the cystic fibrosis locus isolated by selection for methylation-free islandsNature, 1987
- FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBESThe Lancet, 1986
- Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA MarkerScience, 1985
- A closely linked genetic marker for cystic fibrosisNature, 1985
- A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7Nature, 1985