Linked Life Data

3209414

Source:http://linkedlifedata.com/resource/pubmed/id/3209414

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5-6
pubmed:dateCreated
1989-2-16
pubmed:abstractText
An extended survey of 8,103 Sardinian newborns has been conducted for the study of abnormal gamma-globin gene arrangements. Fetal hemoglobin analysis and globin gene mapping have identified five different arrangements in 24 babies: five (21%) were carriers of the -GA gamma- hybrid (thalassemic) gene, directing the synthesis of the A gamma chain and resulting in low (41%) G gamma chain and decreased Hb F levels; two (8%) carried the -A gamma-A gamma T- duplication, characterized by even lower (37%) G gamma levels; five (21%) carried the -G gamma-AG gamma-A gamma- triplication; one (4%) carried the -G gamma-G gamma-A gamma- triplication, and 11 (46%) the -G gamma-G gamma- duplication, all resulting in high G gamma levels (85, 83, and 88%, respectively). Thirty-six additional babies could be phenotypically classified as carriers of the same mutations. Haplotyping and gamma-chain composition showed that the crossover event generating the -GA gamma- hybrid gene and the corresponding -G gamma-AG gamma-A gamma- triplication has occurred on at least three different chromosomes. The -G gamma-G gamma- duplication was associated with the chromosome having haplotype I, and the -A gamma-A gamma T- with the chromosome of haplotype II. As many as 2,260 babies (28%) were heterozygous, and 254 (3%) homozygous for the A gamma T mutation. The incidence and relative distribution of these anomalies in Sardinia are different when compared with those of other ethnic groups.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0363-0269
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
741-53
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Abnormal gamma-globin gene arrangements in Sardinians.
pubmed:affiliation
Institute of General Physiology and Biochemistry, University of Sassari, Italy.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't