| pubmed-article:20567827 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20567827 | lifeskim:mentions | umls-concept:C0002312 | lld:lifeskim |
| pubmed-article:20567827 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20567827 | lifeskim:mentions | umls-concept:C0220908 | lld:lifeskim |
| pubmed-article:20567827 | lifeskim:mentions | umls-concept:C0750502 | lld:lifeskim |
| pubmed-article:20567827 | lifeskim:mentions | umls-concept:C2737269 | lld:lifeskim |
| pubmed-article:20567827 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:20567827 | pubmed:dateCreated | 2010-11-5 | lld:pubmed |
| pubmed-article:20567827 | 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. | lld:pubmed |
| pubmed-article:20567827 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20567827 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20567827 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20567827 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20567827 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20567827 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20567827 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20567827 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:20567827 | pubmed:issn | 1432-0584 | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:SchuhAnnaA | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:HendersonShir... | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:OldJohnJ | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:TimbsAdeleA | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:HaywoodAnnaA | lld:pubmed |
| pubmed-article:20567827 | pubmed:author | pubmed-author:DreauHeleneH | lld:pubmed |
| pubmed-article:20567827 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20567827 | pubmed:volume | 89 | lld:pubmed |
| pubmed-article:20567827 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20567827 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20567827 | pubmed:pagination | 1215-21 | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:meshHeading | pubmed-meshheading:20567827... | lld:pubmed |
| pubmed-article:20567827 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20567827 | pubmed:articleTitle | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. | lld:pubmed |
| pubmed-article:20567827 | 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 | lld:pubmed |
| pubmed-article:20567827 | pubmed:publicationType | Journal Article | lld:pubmed |
