RT Journal Article
SR Electronic
T1 Cystic fibrosis carrier detection using a linked gene probe.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 295
OP 299
DO 10.1136/jmg.23.4.295
VO 23
IS 4
A1 M Farrall
A1 P Scambler
A1 K W Klinger
A1 K Davies
A1 C Worrall
A1 R Williamson
A1 B Wainwright
YR 1986
UL http://jmg.bmj.com/content/23/4/295.abstract
AB Cloned DNA markers which are closely linked to the gene defect causing cystic fibrosis have recently been described. These markers are sufficiently informative for carrier detection in 80% of families where there is a living cystic fibrosis child and unaffected sibs. The tightly linked DNA marker pJ3.11 was used in this study to identify carriers in six families and exclude carrier status in two subjects. Risk calculations for recessive diseases using linked DNA probes may be complex, but useful information for counselling can be obtained in this way.