Linked Life Data

20567827

Source:http://linkedlifedata.com/resource/pubmed/id/20567827

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2010-11-5
pubmed:abstractText
Non-deletional ?(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of ?(+)-thalassaemia. Screening for the common deletional forms of ?-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional ?-thalassaemia mutations is technically more labour-intensive and expensive, as it requires DNA sequencing. In addition, the presence of four very closely homologous alpha globin genes and the frequent co-existence of deletional forms of ?-thalassaemia present another layer of complexity in the detection of these mutations. With growing evidence that non-deletional ?-thalassaemia is relatively common in the UK, there is a demand for technologies which can quickly and accurately screen for these mutations. We describe a method utilising pyrosequencing for detecting the ten most common clinically significant non-deletional ?-thalassaemia mutations in the UK. We tested 105 patients with non-deletional ?-thalassaemia and found 100% concordance with known genotype as identified by Sanger sequencing. We found pyrosequencing to be simpler, more robust, quicker, and cheaper than conventional sequencing, making it a good choice for rapid and cost-effective diagnosis of patients with suspected non-deletional ?-thalassaemia. The technique is also likely to help expedite prenatal diagnosis of pregnancies at risk of ?-thalassaemia major.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1432-0584
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1215-21
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
pubmed:affiliation
National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Haemophilia Centre, Churchill Hospital, Oxford Radcliffe NHS Trust, Oxford, UK OX3 7LJ. anna.haywood@orh.nhs.uk
pubmed:publicationType
Journal Article