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Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

โœ Scribed by G. A. Scobie; A. J. Urquhart; G. H. Elder; N. A. Kalsheker; D. H. Llewellyn; J. Smyth; P. R. Harrison

Publisher
Springer
Year
1990
Tongue
English
Weight
306 KB
Volume
85
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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.

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