The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel

Journal Article · Mon Aug 01 00:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6949783

Elpeleg, O N; Shaag, A; Anikster, Y; Branski, D; Barash, V ^[1]

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1. Hadassah Medical Center, Jerusalem (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 aspartoacyclase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. The authors 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. 9 refs.

• OSTI ID: 6949783
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CENTRAL NERVOUS SYSTEM
CYCLASES
DISEASES
ENZYMES
ETIOLOGY
GENE MUTATIONS
HEREDITARY DISEASES
HUMAN POPULATIONS
LYASES
MUTATIONS
NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
SCREENING