-transparent.png){kind=logo}
Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene. 1990
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, ScrFI/BstNI) within the human porphobilinogen deaminase (PBG-D) gene have been studied in 47 unrelated patients with the autosomal dominant disorder, acute intermittent porphyria (AIP), and in 92 control subjects. Each enzyme identified a two-allele polymorphism with allele frequencies close to 0.50: however, marked linkage disequilibrium limited the number of observed haplotypes to four, of which one is uncommon. No association was detected between any haplotype and AIP.
Related Publications
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
August 1988,
Human genetics,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
August 1996,
Human genetics,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
August 1994,
Human genetics,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
October 1992,
Schizophrenia research,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
January 1995,
European journal of human genetics : EJHG,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
January 2009,
Annals of human biology,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
January 2002,
Molecular psychiatry,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
January 1990,
Genetic epidemiology,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
February 2007,
Genetical research,
G A Scobie, and
A J Urquhart, and
G H Elder, and
N A Kalsheker, and
D H Llewellyn, and
J Smyth, and
P R Harrison
October 1994,
Clinical chemistry,
