Linked Life Data

2875755

Source:http://linkedlifedata.com/resource/pubmed/id/2875755

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1986-11-7
pubmed:abstractText
To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight beta-thalassemia genes from Chinese and Southeast Asians were randomly obtained, and the relevant mutation was characterized in 76 (98%) of them. Seven different point mutations were found among the 78 genes studied. Of these seven beta-thalassemia alleles, two constitute 62%, and two others account for 29% of the total. Since only four alleles make up 91% of the mutant genes, prenatal diagnosis of beta-thalassemia in China and Southeast Asia should be feasible by simplified techniques for direct detection of point mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:volume
68
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
964-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
The spectrum of beta-thalassemia genes in China and Southeast Asia.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't