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J Hum Genet. 2006;51(1):21-4. Epub 2005 Nov 5.

Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population.

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1
Department of Pharmacology and Toxicology, Faculty of Medicine, University of Tübingen, Wilhelmstrasse 56, 72074 Tübingen, Germany. doris.kloor@uni-tuebingen.de

Abstract

Recently, a proven case of human S-adenosylhomocysteine-hydrolase (SAHH) deficiency was reported in a Croatian boy. As molecular analysis of the SAHH gene in this case revealed two different mutant alleles, we investigated the polymorphism of human SAHH in a total of 237 red blood samples from unrelated Croats using starch gel electrophoresis and an enzyme-specific staining procedure. From the relative enzymatic activity of SAHH--determined by densitometric assessment of electrophoretic patterns, and calculated on the basis of the protein concentration of the red blood cells-we detected three individuals as being heterozygous for an SAHH 0-allele. Moreover, a total of four different electromorphic SAHHs have been observed, giving allele frequencies calculated as SAHH 1 = 0.941, SAHH 2 = 0.032, SAHH 3 = 0.006, SAHH 4 = 0.015, and SAHH 0 = 0.006.

PMID:
16273424
DOI:
10.1007/s10038-005-0315-z
[Indexed for MEDLINE]
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