Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8659
|
pubmed:dateCreated |
1989-9-11
|
pubmed:abstractText |
The polymerase chain reaction was used to detect four mutations in the DNA of 47 unrelated patients with type I Gaucher's disease (94 Gaucher's disease alleles). Two of the mutations, 1226 and 1448, and a new mutation (XOVR) representing cross-over between the glucocerebrosidase gene and its closely linked pseudogene, were found. There were five genotypes--namely, 1226/1226, 1226/1448, 1226/XOVR, 1226/?, and ?/? (where "?" indicates that none of the four known mutations was present). Severity of the disease was assessed with a scoring index according to age at diagnosis and extent of organ involvement. Mutation 1226 was associated with a mild clinical phenotype, and mutation 1448 with a more severe phenotype. Mutation 1226 is the most common cause of Gaucher's disease in Jewish patients.
|
pubmed:grant | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
AIM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0140-6736
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
12
|
pubmed:volume |
2
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
349-52
|
pubmed:dateRevised |
2007-11-15
|
pubmed:meshHeading |
pubmed-meshheading:2569551-Adolescent,
pubmed-meshheading:2569551-Adult,
pubmed-meshheading:2569551-Aged,
pubmed-meshheading:2569551-Alleles,
pubmed-meshheading:2569551-Amino Acid Sequence,
pubmed-meshheading:2569551-Child,
pubmed-meshheading:2569551-Child, Preschool,
pubmed-meshheading:2569551-DNA,
pubmed-meshheading:2569551-Evaluation Studies as Topic,
pubmed-meshheading:2569551-Female,
pubmed-meshheading:2569551-Gaucher Disease,
pubmed-meshheading:2569551-Gene Amplification,
pubmed-meshheading:2569551-Genotype,
pubmed-meshheading:2569551-Glucosidases,
pubmed-meshheading:2569551-Glucosylceramidase,
pubmed-meshheading:2569551-Humans,
pubmed-meshheading:2569551-Infant,
pubmed-meshheading:2569551-Male,
pubmed-meshheading:2569551-Middle Aged,
pubmed-meshheading:2569551-Molecular Sequence Data,
pubmed-meshheading:2569551-Mutation,
pubmed-meshheading:2569551-Oligonucleotide Probes,
pubmed-meshheading:2569551-Severity of Illness Index
|
pubmed:year |
1989
|
pubmed:articleTitle |
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
|
pubmed:affiliation |
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California.
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|