Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Rapid genetic screening for haemochromatosis using heteroduplex technology

Jackson, H. A., Bowen, Derrick John and Worwood, Mark 1997. Rapid genetic screening for haemochromatosis using heteroduplex technology. British Journal of Haematology 98 (4) , pp. 856-859. 10.1046/j.1365-2141.1997.3193136.x

Full text not available from this repository.

Abstract

The recently described association between haemochromatosis and mutations in the HFE or HLA-'H' gene has prompted the need for a simple and rapid genetic test capable of detecting multiple mutations simultaneously. Heteroduplex analysis, a new diagnostic technique, fulfills such criteria and we have investigated the potential for the detection of the Cys282Tyr mutation. 100 subjects were genotyped using the heteroduplex approach. The results showed clear distinction between individuals who did not carry the mutation, individuals who were heterozygous for the mutation and homozygous individuals. Heteroduplex results obtained by both silver staining and capillary electrophoresis showed 100% concordance with those obtained by restriction digestion of PCR product.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Haemochromatosis; Genetic screening; Heteroduplex analysis
Publisher: Wiley-Blackwell
ISSN: 0007-1048
Last Modified: 04 Jun 2017 06:12
URI: http://orca.cf.ac.uk/id/eprint/57275

Citation Data

Cited 45 times in Google Scholar. View in Google Scholar

Cited 48 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item