The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been reported in Ashkenazi Jewish families. The primary enzymatic defect is aspartoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD and 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutation. All 18 patients were homozygotes for the mutation, and 15 heterozygotes were found among the healthy individuals. The results disclose a carrier rate of 1:59 and suggest that a screening for the mutation is warranted among Ashkenazi Jewish couples.
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
O N
ON
Elpeleg
Y
Y
Anikster
V
V
Barash
D
D
Branski
A
A
Shaag
D000581:Amidohydrolases / Q000235:genetics*; D001483:Base Sequence; D017825:Canavan Disease / Q000453:epidemiology / Q000235:genetics*; D017931:DNA Primers; D005787:Gene Frequency; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
D017931:DNA Primers; D000581:Amidohydrolases; C019751:aspartoacylase