Linked Life Data

21129264

Source:http://linkedlifedata.com/resource/pubmed/id/21129264

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-12-6
pubmed:abstractText
This study was aimed to analyze the ?-globin gene sequence and single nucleotide polymorphisms of the ?-globin gene in ?-thalassaemia patients from Shenzhen area, and to explore linkage relationships between ?-globin gene mutations and single nucleotide polymorphisms. Genomic DNA was extracted from peripheral leukocytes in 125 ?-thalassaemia patients from Shenzhen population. ?-globin gene was amplified by polymerase chain reaction, mutations and single nucleotide polymorphisms in the ?-globin gene were determined by DNA sequencing. The results indicated 10 types of mutation and 12 single nucleotide polymorphism loci were found in the ?-globin gene of 114 ?-thalassaemia patients. Linkage disequilibrium between mutations and single nucleotide polymorphisms was found in 6 loci including 6 haplotypes among these single nucleotide polymorphism loci in the ?-globin gene. It is concluded that a number of single nucleotide polymorphisms is found in the ?-globin gene, where an average of one single nucleotide polymorphism every 230 bp there is. Linkage disequilibrium occurs between ?-thalassaemia mutations and some haplotypes in single nucleotide polymorphism loci. This study may be helpful to gene diagnosis for ?-thalassaemia patients.
pubmed:language
chi
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1009-2137
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1220-3
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Single nucleotide polymorphisms of ?-globin gene in ?-thalassaemia patients].
pubmed:affiliation
Department of Clinical Laboratory Examination, Baoan District People Hospital, Shenzhen 518101, Guangdong Province, China. shunchangsun@yahoo.com.cn
pubmed:publicationType
Journal Article, English Abstract