Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1990-6-6
pubmed:abstractText
Two distinct mutant alleles of the precursor (p) short chain acyl-CoA dehydrogenase (SCAD) gene were identified in a SCAD-deficient patient (YH2065) using the polymerase chain reaction to amplify cDNA synthesized from total RNA from her fibroblasts. Cells from this patient had previously been shown to synthesize a labile variant SCAD in contrast to the normal stability of variant SCADs in two other SCAD-deficient cell lines (Naito, E., Y. Indo, and K. Tanaka. 1989. J. Clin. Invest. 84:1671-1674). In the present study, both mutant alleles of YH2065 were found to contain a C----T transition, one at position 136 and the other at position 319 of the coding region of pSCAD cDNA. Clones of cDNA amplified from this region showed only one of the C----T transitions, indicating that each mutation was derived from different pSCAD alleles. Each of these mutations altered a known restriction endonuclease site, and restriction analysis of additional cDNA clones from amplified mutant cDNA and Southern blotting of mutant genomic DNA confirmed the presence of two unique mutant alleles in YH2065, indicating YH2065 is a compound heterozygote. These C----T transitions result in the substitution of Arg-22 and Arg-83 of the mature SCAD with Trp and Cys, respectively.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2448875, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2565344, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2741942, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2777793, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2808706, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-2928313, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3012775, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3035565, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3170748, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3273859, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3335634, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3382992, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-354496, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3571488, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3597357, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3611054, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3813556, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-3968063, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-6167991, http://linkedlifedata.com/resource/pubmed/commentcorrection/1692038-6198090
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0021-9738
pubmed:author
pubmed:issnType
Print
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1575-82
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
pubmed:affiliation
Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut 06510.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.