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Article

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.

Human genetics - 1 Jul 1990

Scobie G A, Urquhart A J, Elder G H, Kalsheker N A, Llewellyn D H, Smyth J, Harrison P R

Abstract excerpt

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...

Topics

Acute Disease
Alleles
Ammonia-Lyases
Family Health
Genetic Carrier Screening
Haplotypes
Humans
Hydroxymethylbilane Synthase
Isoenzymes
Linkage Disequilibrium
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Porphyrias

Source

Identifiers

PMID: 1973402
DOI: 10.1007/BF00193188

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973402-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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