Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder. There are two type of thalassaemia which α and β thalassemia. α-thalassaemia either the deletion of a...
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| التنسيق: | أطروحة |
| اللغة: | English |
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2015
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| الوصول للمادة أونلاين: | http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf |
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my-usm-ep.407702018-07-16T01:24:51Z Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques 2015-05 Fathma Abdullah, Nurul Ain RC Internal medicine Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder. There are two type of thalassaemia which α and β thalassemia. α-thalassaemia either the deletion of a single or double α-globin gene deletion that is located at position 16p3.3 is the one of the most common genetic disorder in the world. In Malaysia, the incidence is 4.5%. The aims of this study were to identify and characterised the common deletional type cases of α-thalassaemia in Malay pregnant women at HUSM by molecular method. A total of 200 Malay pregnant women who attended for an antenatal check-up at Hospital Universiti Sains Malaysia were screened for α-thalassaemia. DNA was extracted from 200 pregnant women blood using commercial DNA extraction kit prior to PCR amplification. Of these, 16 were excluded as they were diagnosed as β- thalassaemia/Hb E trait. Out of 184 genomic DNA, 17 (9.2%) were possessed α-thalassaemia deletion. The genotype could be identified to - α3.7/αα in 15 (8.1%) and --SEA/αα in 2(1.1%). While -α4.2 kb deletion and --THAI deletion was not detected in our subjects. Thus, the most common deletion in the Malays pregnant women were -α3.7 followed by --SEA. The molecular method has been established to detect these carriers. The presence of two gene deletion evidenced by --SEA. showed the importance to screen α- thalassaemia among Malay pregnant women and subsequent screening patients' spouse to exclude hydrops fetalis. Detection of --SEA α-thalassaemia by PCR techniques is convenient, and suitable to be used as a confirmatory test. 2015-05 Thesis http://eprints.usm.my/40770/ http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf application/pdf en public masters Universiti Sains Malaysia Pusat Pengajian Sains Perubatan |
| institution |
Universiti Sains Malaysia |
| collection |
USM Institutional Repository |
| language |
English |
| topic |
RC Internal medicine |
| spellingShingle |
RC Internal medicine Fathma Abdullah, Nurul Ain Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| description |
Thalassaemia is the most common inherited disorder worldwide and
represent as a major health problem in many areas and approximately 4.5%-
6% of Malaysians are carrier of this genetic disorder. There are two type of
thalassaemia which α and β thalassemia. α-thalassaemia either the deletion
of a single or double α-globin gene deletion that is located at position 16p3.3
is the one of the most common genetic disorder in the world. In Malaysia, the
incidence is 4.5%. The aims of this study were to identify and characterised
the common deletional type cases of α-thalassaemia in Malay pregnant
women at HUSM by molecular method. A total of 200 Malay pregnant
women who attended for an antenatal check-up at Hospital Universiti Sains
Malaysia were screened for α-thalassaemia. DNA was extracted from 200
pregnant women blood using commercial DNA extraction kit prior to PCR
amplification. Of these, 16 were excluded as they were diagnosed as β-
thalassaemia/Hb E trait. Out of 184 genomic DNA, 17 (9.2%) were
possessed α-thalassaemia deletion. The genotype could be identified to -
α3.7/αα in 15 (8.1%) and --SEA/αα in 2(1.1%). While -α4.2 kb deletion and --THAI
deletion was not detected in our subjects. Thus, the most common deletion in
the Malays pregnant women were -α3.7 followed by --SEA. The molecular
method has been established to detect these carriers. The presence of two gene deletion evidenced by --SEA. showed the importance to screen α-
thalassaemia among Malay pregnant women and subsequent screening
patients' spouse to exclude hydrops fetalis. Detection of --SEA α-thalassaemia
by PCR techniques is convenient, and suitable to be used as a confirmatory
test.
|
| format |
Thesis |
| qualification_level |
Master's degree |
| author |
Fathma Abdullah, Nurul Ain |
| author_facet |
Fathma Abdullah, Nurul Ain |
| author_sort |
Fathma Abdullah, Nurul Ain |
| title |
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| title_short |
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| title_full |
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| title_fullStr |
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| title_full_unstemmed |
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| title_sort |
detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques |
| granting_institution |
Universiti Sains Malaysia |
| granting_department |
Pusat Pengajian Sains Perubatan |
| publishDate |
2015 |
| url |
http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf |
| _version_ |
1747820819448332288 |