Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system
Background: The interaction of the non-deletional α +- thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, wh...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Penerbit Universiti Sains Malaysia
2009
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| Online Access: | http://psasir.upm.edu.my/id/eprint/15693/ http://psasir.upm.edu.my/id/eprint/15693/1/Molecular%20characterisation%20of%20Haemoglobin%20Constant%20Spring%20and%20Haemoglobin%20Quong%20Sze%20with%20a%20combine.pdf |
| _version_ | 1848842750006394880 |
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| author | Wee, Yong Chui Tan, Kim Lian Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_facet | Wee, Yong Chui Tan, Kim Lian Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_sort | Wee, Yong Chui |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Background:
The interaction of the non-deletional α +- thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population.
Methods:
DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine- amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction.
Results and Conclusions:
The combine- amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA. |
| first_indexed | 2025-11-15T08:04:05Z |
| format | Article |
| id | upm-15693 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T08:04:05Z |
| publishDate | 2009 |
| publisher | Penerbit Universiti Sains Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-156932016-11-30T01:50:29Z http://psasir.upm.edu.my/id/eprint/15693/ Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system Wee, Yong Chui Tan, Kim Lian Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai Background: The interaction of the non-deletional α +- thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population. Methods: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine- amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction. Results and Conclusions: The combine- amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA. Penerbit Universiti Sains Malaysia 2009 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/15693/1/Molecular%20characterisation%20of%20Haemoglobin%20Constant%20Spring%20and%20Haemoglobin%20Quong%20Sze%20with%20a%20combine.pdf Wee, Yong Chui and Tan, Kim Lian and Chua, Kek Heng and George, Elizabeth and Tan, Mary Anne Jin Ai (2009) Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system. Malaysian Journal of Medical Sciences, 16 (3). pp. 23-30. ISSN 1394-195X; ESSN: 2180-4303 http://www.mjms.usm.my/default.asp?tag=14&kod_volume=29 |
| spellingShingle | Wee, Yong Chui Tan, Kim Lian Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title | Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title_full | Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title_fullStr | Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title_full_unstemmed | Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title_short | Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system |
| title_sort | molecular characterisation of haemoglobin constant spring and haemoglobin quong sze with a combine-amplification refractory mutation system |
| url | http://psasir.upm.edu.my/id/eprint/15693/ http://psasir.upm.edu.my/id/eprint/15693/ http://psasir.upm.edu.my/id/eprint/15693/1/Molecular%20characterisation%20of%20Haemoglobin%20Constant%20Spring%20and%20Haemoglobin%20Quong%20Sze%20with%20a%20combine.pdf |