Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
Non-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-thalassaemia mutations is...
| Autors principals: | , , , , , |
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| Format: | Journal article |
| Idioma: | English |
| Publicat: |
2010
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| _version_ | 1826282203299971072 |
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| author | Haywood, A Dreau, H Timbs, A Schuh, A Old, J Henderson, S |
| author_facet | Haywood, A Dreau, H Timbs, A Schuh, A Old, J Henderson, S |
| author_sort | Haywood, A |
| collection | OXFORD |
| description | Non-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-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 α-thalassaemia present another layer of complexity in the detection of these mutations. With growing evidence that non-deletional α-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 α-thalassaemia mutations in the UK. We tested 105 patients with non-deletional α-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 α-thalassaemia. The technique is also likely to help expedite prenatal diagnosis of pregnancies at risk of α-thalassaemia major. |
| first_indexed | 2024-03-07T00:40:18Z |
| format | Journal article |
| id | oxford-uuid:82d1175e-e0a2-45d2-843d-c033b7411036 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:40:18Z |
| publishDate | 2010 |
| record_format | dspace |
| spelling | oxford-uuid:82d1175e-e0a2-45d2-843d-c033b74110362022-03-26T21:40:00ZScreening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:82d1175e-e0a2-45d2-843d-c033b7411036EnglishSymplectic Elements at Oxford2010Haywood, ADreau, HTimbs, ASchuh, AOld, JHenderson, SNon-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-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 α-thalassaemia present another layer of complexity in the detection of these mutations. With growing evidence that non-deletional α-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 α-thalassaemia mutations in the UK. We tested 105 patients with non-deletional α-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 α-thalassaemia. The technique is also likely to help expedite prenatal diagnosis of pregnancies at risk of α-thalassaemia major. |
| spellingShingle | Haywood, A Dreau, H Timbs, A Schuh, A Old, J Henderson, S Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title_full | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title_fullStr | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title_full_unstemmed | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title_short | Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. |
| title_sort | screening for clinically significant non deletional alpha thalassaemia mutations by pyrosequencing |
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