[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)].
The two enzymes of galactose metabolism, namely galactokinase and galactose-1-phosphate uridyltransferase (Gal-1-PUT), were measured in 3653 subjects aged 7 months to 84 years in der to obtain the incidence of the gene deficiency causing galactosaemia in the Western Hungarian province of Vas. To date nothing is known about these frequencies in this particular region. It was of special interest whether these enzyme defects are to be found more frequently in gypsies than in a comparable population of West Hungary. The frequency of homozygous Gal-1-PUT deficiency amounts to 1:23,500; the respective incidence of galactokinase deficiency is 1:64,000. Both enzyme deficiencies in this province are not higher than in other countries. Considerable differences were established in the gene frequencies in individual areas and for various groups of subjects with variations from 1:30,000 to 1: 127,000 for galactokinase deficiency and from 1:5,300 to 1:81,000 for Gal-1-PUT deficiency. Neither gene deficiency occurred more frequently in gypsies than in the general population. This study demonstrates that the results of such analyses are relevant only to the investigated region and the greatest possible number of subjects must be taken in order to draw reliable conclusions.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005693:Galactosemias / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006814:Hungary; D007223:Infant; D008875:Middle Aged; D009713:Nucleotidyltransferases / Q000097:blood*; D010770:Phosphotransferases / Q000097:blood*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
D010770:Phosphotransferases; D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Frequenzanalysen für beide Arten der Galaktosämie in Westungarn.