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Mutations in galactose‐1‐phosphate uridyltransferase gene in patients with idiopathic presenile cataract
Author(s) -
Karas N.,
Gobec L.,
Pfeifer V.,
Mlinar B.,
Battelino T.,
LukacBajalo J.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000005660.88944.2f
Subject(s) - medicine , allele , mutation , allele frequency , polymerase chain reaction , gene , genetics , endocrinology , biology
Summary: Impaired activity of the enzyme galactose‐1‐phosphate uridyltransferase (GALT) has been proposed as a risk factor for idiopathic presenile cataract. A study was undertaken to determine the prevalence of the three most common mutations in the GALT gene (Q188R, K285N and N314D, including its variant Duarte‐2) in a group of Slovenian patients with idiopathic presenile cataract. GALT activity was determined in the erythrocytes of 30 cataract patients. DNA was isolated from their blood and analysed for Q188R, K285N and N314D mutations and IVS5−24G>A intronic variation by means of polymerase chain reaction and digestion with restriction enzymes. The average GALT activity of the cataract group was 19.5±4.9 U/g Hb, which is lower than the normal range ( p = 0.034). Frequencies of Q188R, K285N, N314D and Duarte‐2 alleles in the cataract group were 0.00%, 5.0%, 11.7% and 3.3%, respectively. Only the frequency of the K285N mutation was significantly higher in the patient group than in the control group ( p = 0.0244). Our results support the reported association of decreased GALT activity with idiopathic presenile cataract. Molecular analysis indicates that, in the Slovenian population, this association is linked to the K285N mutation, which is neonatally benign in heterozygotes.