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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1988-5-12
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pubmed:databankReference |
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pubmed:abstractText |
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in the type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with this mutation, suggesting that even in this population there is allelic heterozygosity. These findings indicate that there are multiple allelic mutations responsible for type 1 Gaucher disease in both the Jewish and non-Jewish populations. Allelic-specific hybridization demonstrating this mutation in exon 9, used in conjunction with the Nci I restriction fragment length polymorphism described as a marker for neuronopathic Gaucher disease, provides a tool for diagnosis and genetic counseling that is approximately equal to 80% informative in all Gaucher patients studied.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-14282020,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-271968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-2880291,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-2991926,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-3484754,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-3549301,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-3932353,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-3996185,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-4299537,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6198090,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6225933,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6300662,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6365493,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6418635,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6575390,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6593712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6856396,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6883722,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3353383-6957882
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
85
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2349-52
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:3353383-Adolescent,
pubmed-meshheading:3353383-Adult,
pubmed-meshheading:3353383-Alleles,
pubmed-meshheading:3353383-Amino Acid Sequence,
pubmed-meshheading:3353383-Base Sequence,
pubmed-meshheading:3353383-Child,
pubmed-meshheading:3353383-Child, Preschool,
pubmed-meshheading:3353383-Gaucher Disease,
pubmed-meshheading:3353383-Genotype,
pubmed-meshheading:3353383-Glucosidases,
pubmed-meshheading:3353383-Glucosylceramidase,
pubmed-meshheading:3353383-Humans,
pubmed-meshheading:3353383-Infant,
pubmed-meshheading:3353383-Jews,
pubmed-meshheading:3353383-Middle Aged,
pubmed-meshheading:3353383-Molecular Sequence Data,
pubmed-meshheading:3353383-Mutation,
pubmed-meshheading:3353383-Risk
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pubmed:year |
1988
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pubmed:articleTitle |
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
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pubmed:affiliation |
Molecular Neurogenetics Unit, National Institute of Mental Health, ADAMHA, Bethesda, MD 20892.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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