Linked Life Data

1682071

Source:http://linkedlifedata.com/resource/pubmed/id/1682071

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1991-12-23
pubmed:abstractText
At present the identification of patients and carriers of most lysosomal disorders is accomplished by finding decreased activity of one enzyme in an easily obtained tissue sample such as leukocytes. As the genes for these enzymes are cloned and mutations identified, the use of molecular techniques to supplement enzyme testing will be warranted. To facilitate the implementation of such studies a simple method for isolating DNA from the remaining leukocyte sonicate, and using this DNA for polymerase chain reaction amplification of regions involved in three lysosomal disorders is described. The DNA from the sonicate was isolated without proteinase K digestion, was readily soluble in Tris-EDTA buffer and available for amplification almost immediately. The usefulness of the methods was confirmed by studies on patients and family members with three relatively common lysosomal disorders, metachromatic leukodystrophy. Gaucher disease and Tay-Sachs disease. This method allows immediate DNA analysis without the need for securing an additional blood sample.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0009-8981
pubmed:author
pubmed:issnType
Print
pubmed:day
31
pubmed:volume
199
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7-15
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.
pubmed:affiliation
Department of Medicine (Medical Genetics) Jefferson Medical College, Philadelphia, PA 19107.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't