Linked Life Data

19958186

Source:http://linkedlifedata.com/resource/pubmed/id/19958186

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-12-4
pubmed:abstractText
beta-Thalassemia (beta-thal) is a major health problem in Iran and the incidence of carriers is around 3-4%. The disease is caused by heterogeneous mutations in the beta-globin gene and is characterized by hypochromic microcytic anemia. The human beta-globin complex spans a region of 70 kb and contains over 20 restriction fragment length polymorphisms (RFLPs). At least nine RFLP markers including RsaI/beta in the beta-globin gene cluster have been routinely exploited for prenatal diagnosis. Here, we report a novel polymorphism upstream of the beta-globin gene characterized by RsaI digestion. Sequencing of a fragment containing this area showed a nucleotide change (T>C) at position -223 upstream of the beta-globin gene. This change could interfere with precise interpretation of the RsaI digestion pattern in linkage analysis and prenatal diagnosis of beta-thal.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1532-432X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
417-21
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A novel polymorphism causes a different restriction pattern by RsaI in the beta-globin gene cluster: application in prenatal diagnosis.
pubmed:affiliation
National Reference Centre For Prenatal Diagnosis of Thalassaemia and Haemoglobinopathies, Pasteur Institute of Iran, Tehran, Iran 13164.
pubmed:publicationType
Journal Article