Linked Life Data

21077760

Source:http://linkedlifedata.com/resource/pubmed/id/21077760

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-11-16
pubmed:abstractText
Hb D-Punjab [?121(GH4)Glu?Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelated Agharia families. Twelve cases were Hb S [?6(A3)Glu?Val]/Hb D-Punjab compound heterozygotes and 13 were Hb D trait carriers. In 76.0% of the cases, the ?(D) gene was linked to haplotype I, whereas 24.0% had a novel haplotype. None of the haplotypes matched the ?(A) haplotype of the local population. In view of the ancestral origin of the subjects and the high prevalence of the ?(D) gene in the states of northern India, we suggest a North Indian origin for the ?(D) mutation in our population. The finding of a novel haplotype in eastern India supports the hypothesis of a multicentric origin of this mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1532-432X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
530-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
?-globin gene haplotypes linked with the Hb D-Punjab [?121(GH4)Glu?Gln, GAA>CAA] mutation in eastern India.
pubmed:affiliation
Sickle Cell Research Project, Department of Medicine, Veer Surendra Sai Medical College, Burla, Orissa, India. drdilippatel25@gmail.com
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't