Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis.

Lancet (London, England) ·Vol. 2 ·No. 8678-8679 ·1989-00-00 ·Pages 1481-3

Newton CR, Heptinstall LE, Summers C, Super M, Schwarz M, Anwar R, Graham A, Smith JC, Markham AF

Abstract

The amplification refractory mutation system (ARMS) has been applied to prenatal diagnosis and carrier detection of cystic fibrosis. The nucleotide sequence of both alleles of the PstI restriction fragment length polymorphism at the KM19 locus, which displays linkage disequilibrium with cystic fibrosis, has been determined. ARMS enables direct analysis of alleles of this polymorphism in DNA isolated from chorionic villus biopsy or white blood cells.

MeSH Terms

Alleles Chorionic Villi Sampling Chromosome Mapping Cystic Fibrosis/diagnosis,genetics Evaluation Studies as Topic Female Genetic Carrier Screening/methods Genotype Haplotypes/genetics Humans Linkage Disequilibrium Male Mutation Nucleic Acid Amplification Techniques Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Pregnancy Prenatal Diagnosis/methods

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Newton C R

ICI Diagnostics, Gadbrook Park, Northwich, Cheshire.

Heptinstall L E

Summers C

Super M

Schwarz M

Anwar R

Graham A

Smith J C

Markham A F

Article Info

Journal

Lancet (London, England)

Abbr.

Lancet

ISSN

0140-6736

DOI

10.1016/s0140-6736(89)92931-0

Published

1989-00-00

Pages

1481-3

Language

English

Region

England

NLM ID

2985213R

Subset

External Links

PubMed source DOI: 10.1016/s0140-6736(89)92931-0 View journal details

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