Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene
OBJECTIVE: Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English English |
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Malaysian Medical Association
2014
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf http://irep.iium.edu.my/36773/4/scopus.pdf |
| _version_ | 1796878791461568512 |
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| author | A.Talib, Norlelawati Ismail, Rusmawati Muhammad, Siti Aeshah @ Naznin O., Nur Nadia R., Rizqan Aizzani Abd. Wahab, Noraziana |
| author_facet | A.Talib, Norlelawati Ismail, Rusmawati Muhammad, Siti Aeshah @ Naznin O., Nur Nadia R., Rizqan Aizzani Abd. Wahab, Noraziana |
| author_sort | A.Talib, Norlelawati |
| collection | IIUM |
| description | OBJECTIVE:
Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type of an inherited anti-thrombin deficiency mutation in a 25-year-old Malay woman who presented with deep vein thrombosis in her first pregnancy.
METHODS:
DNA was extracted from the patient's blood sample and buccal mucosal swabs from family members. Polymerase chain reaction(PCR) assays were designed to cover all seven exons of the serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1) gene; and the products were subjected to DNA sequencing. Sequences were referred to NCBI Reference Sequence: NG_012462.1.
RESULTS:
A heterozygous substitution mutation at nucleotide position 13267 (CCT->ACT) was identified in the patient and two other family members, giving a possible change of codon 439 (Pro→Thr) also known as anti-thrombin Budapest 5. The genotype was absent in 90 healthy controls.
CONCLUSION:
The study revealed a heterozygous antithrombin Budapest 5 mutation in SERPINC 1 giving rise to a possible anti-thrombin deficiency in a Malay-Malaysian family. |
| first_indexed | 2024-03-05T23:26:32Z |
| format | Article |
| id | oai:generic.eprints.org:36773 |
| institution | International Islamic University Malaysia |
| language | English English |
| last_indexed | 2024-03-05T23:26:32Z |
| publishDate | 2014 |
| publisher | Malaysian Medical Association |
| record_format | dspace |
| spelling | oai:generic.eprints.org:367732022-04-06T02:14:30Z http://irep.iium.edu.my/36773/ Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene A.Talib, Norlelawati Ismail, Rusmawati Muhammad, Siti Aeshah @ Naznin O., Nur Nadia R., Rizqan Aizzani Abd. Wahab, Noraziana RB Pathology OBJECTIVE: Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type of an inherited anti-thrombin deficiency mutation in a 25-year-old Malay woman who presented with deep vein thrombosis in her first pregnancy. METHODS: DNA was extracted from the patient's blood sample and buccal mucosal swabs from family members. Polymerase chain reaction(PCR) assays were designed to cover all seven exons of the serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1) gene; and the products were subjected to DNA sequencing. Sequences were referred to NCBI Reference Sequence: NG_012462.1. RESULTS: A heterozygous substitution mutation at nucleotide position 13267 (CCT->ACT) was identified in the patient and two other family members, giving a possible change of codon 439 (Pro→Thr) also known as anti-thrombin Budapest 5. The genotype was absent in 90 healthy controls. CONCLUSION: The study revealed a heterozygous antithrombin Budapest 5 mutation in SERPINC 1 giving rise to a possible anti-thrombin deficiency in a Malay-Malaysian family. Malaysian Medical Association 2014-02 Article PeerReviewed application/pdf en http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf application/pdf en http://irep.iium.edu.my/36773/4/scopus.pdf A.Talib, Norlelawati and Ismail, Rusmawati and Muhammad, Siti Aeshah @ Naznin and O., Nur Nadia and R., Rizqan Aizzani and Abd. Wahab, Noraziana (2014) Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene. The Medical Journal of Malaysia, 69 (1). pp. 27-30. ISSN 0300-5283 http://www.e-mjm.org/2014/v69n1/inherited-anti-thrombin-deficiency.pdf |
| spellingShingle | RB Pathology A.Talib, Norlelawati Ismail, Rusmawati Muhammad, Siti Aeshah @ Naznin O., Nur Nadia R., Rizqan Aizzani Abd. Wahab, Noraziana Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title | Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title_full | Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title_fullStr | Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title_full_unstemmed | Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title_short | Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene |
| title_sort | inherited anti thrombin deficiency in a malay malaysian family a missense mutation at nucleotide g 13267c a aka anti thrombin budapest 5 p pro439thr of the serpinc 1 gene |
| topic | RB Pathology |
| url | http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf http://irep.iium.edu.my/36773/4/scopus.pdf |
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