Linked Life Data

2424301

Source:http://linkedlifedata.com/resource/pubmed/id/2424301

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1986-7-14
pubmed:abstractText
An AG dinucleotide is an invariant feature of all acceptor splice sites, and deletion or substitution of (one of) these nucleotides will result in abnormal processing of the beta-globin mRNA. Restriction endonuclease mapping of DNA from an American black patient with Hb S-beta zero-thalassemia failed to detect any deletion in the beta 0-globin gene region, but cloning and sequencing of the beta 0-globin gene showed a point mutation (A----C) in the highly conserved dinucleotide AG of the acceptor splice junction of the IVS-2. Blot hybridization analysis of RNA prepared from the erythroid cells of the patient showed only RNA of normal size. The patient and her daughter, who has the same condition, have high levels of Hb F (27%-35%); the mechanism responsible for the greatly increased gamma chain production remains unclear.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0361-8609
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
259-63
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
The beta zero-thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports