Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene
- 1 July 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 85 (2) , 157-159
- https://doi.org/10.1007/bf00193188
Abstract
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.This publication has 13 references indexed in Scilit:
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