Linked Life Data

10464614

Source:http://linkedlifedata.com/resource/pubmed/id/10464614

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-10-12
pubmed:abstractText
Congenital adrenal hyperplasia due to deficiency of steroid 21-hydroxylase (CYP21) is most frequently due to mutations that arise from the nearby CYP21 pseudogene. The mechanism involves either unequal crossing over, which deletes part of the CYP21 functional gene, or gene conversion which puts a mutation from the pseudogene into the functional gene. We have devised an assay to rapidly screen for five known mutations that are due to gene conversion within an 1,800 bp region of the CYP21 gene--I172N, V281L, Q318X, R356W, and a cluster of mutations in exon 6 (I236N, V237E, M239K). This method is based on a set of nested allele-specific polymerase chain reactions done simultaneously in one tube, for which we suggest the acronym NASA, for nested allele-specific amplification. The assay is capable of detecting the mutations individually as well as all combinations of mutations tested.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-6576
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
343-6
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
pubmed:affiliation
Molecular Genetics Laboratory, Children's Mercy Hospital, Kansas City, MO 64108, USA.
pubmed:publicationType
Journal Article, Comparative Study