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• W2061325032 startingPage "570" @default.
• W2061325032 abstract "To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a cloned glucocerebrosidase gene from a patient with Gaucher's disease with a normal gene. We found only a single base substitution (T→C) in exon X. This mutation results in the substitution of proline for leucine in position number 444 and produces a new cleavage site for the NciI restriction endonuclease. We analyzed NciI enzymatic digests of genomic DNA from 20 patients with type 1, 5 with type 2, and 11 with type 3 Gaucher's disease, and 29 normal controls for a restriction-fragment–length polymorphism (RFLP). Four of 5 patients with type 2 disease and all 11 with type 3 disease had at least one allele with the mutation. Two of 5 patients with type 2 disease and 7 of 11 with type 3 were homozygous for this mutation. Only 4 of 20 patients with type 1 Gaucher's disease had the mutant allele and were heterozygous for it. None of the 29 normal controls had the mutant allele. The high frequency of this mutation (444leucine→proline) in patients with neuronopathic Gaucher's disease, detectable by the NciI RFLP, may be of value in the identification of patients who will have the neurologic sequelae of Gaucher's disease. (N Engl J Med 1987; 316:570–5.)" @default.
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• W2061325032 date "1987-03-05" @default.
• W2061325032 modified "2023-10-17" @default.
• W2061325032 title "A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease" @default.
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• W2061325032 doi "https://doi.org/10.1056/nejm198703053161002" @default.
• W2061325032 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2880291" @default.
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