Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families.
Open Access
- 1 October 1991
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (10) , 681-685
- https://doi.org/10.1136/jmg.28.10.681
Abstract
Linkage analysis was carried out on 20 unselected UK families segregating for adenomatous polyposis coli (APC) using four closely linked DNA probes. Significant lod scores were obtained between APC and three markers: pi 227 (D5S37) theta = 0.16; C11p11 (D5S71) theta = 0.10; and YN5.48 (D5S81) theta = 0.00. The fourth, ECB27 (D5S98), gave low lod scores. The APC gene showed linkage with at least one of the probes used in all families, which is in agreement with previous publications. Combined lod scores are now sufficiently high to allow the use of these probes in presymptomatic diagnosis. Despite the fact that 61% of persons at risk were informative for at least one DNA marker, only 15% were informative with flanking probes. One prenatal diagnosis was performed where the initial request had been for sterilisation.Keywords
This publication has 22 references indexed in Scilit:
- The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.Journal of Medical Genetics, 1991
- Genetic Analysis of an Inherited Predisposition to Colon Cancer in a Family with a Variable Number of Adenomatous PolypsNew England Journal of Medicine, 1990
- PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERSThe Lancet, 1989
- Linkage analysis in familial adenomatous polyposis: Order of C11P11 (D5S71) and ?227 (D5S37) loci at the apc geneGenomics, 1989
- Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis.BMJ, 1989
- A computer program to make linkage analysis with liped and linkage easier to perform and less prone to input errorsAnnals of Human Genetics, 1988
- Ozone and Acid RainScience, 1987
- Characterization of a panel of highly variable minisatellites cloned from human DNAAnnals of Human Genetics, 1987
- Report of the committee on methods of linkage analysis and reportingCytogenetic and Genome Research, 1985
- The evolution of cancer of the colon and rectumCancer, 1975