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

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...

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Main Authors: A.Talib, Norlelawati, Ismail, Rusmawati, Muhammad, Naznin, O., Nur Nadia, R., Rizqan Aizzani, Abd. Wahab, Noraziana
Format: Article
Language:English
English
Published: Malaysian Medical Association 2014
Subjects:
RB Pathology
Online Access:http://irep.iium.edu.my/36773/
http://irep.iium.edu.my/36773/
http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf
http://irep.iium.edu.my/36773/4/scopus.pdf
id iium-36773
recordtype eprints
spelling iium-367732018-06-20T05:20:29Z 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, 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, 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
repository_type Digital Repository
institution_category Local University
institution International Islamic University Malaysia
building IIUM Repository
collection Online Access
language English
English
topic RB Pathology
spellingShingle RB Pathology
A.Talib, Norlelawati
Ismail, Rusmawati
Muhammad, 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
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.
format Article
author A.Talib, Norlelawati
Ismail, Rusmawati
Muhammad, Naznin
O., Nur Nadia
R., Rizqan Aizzani
Abd. Wahab, Noraziana
author_facet A.Talib, Norlelawati
Ismail, Rusmawati
Muhammad, Naznin
O., Nur Nadia
R., Rizqan Aizzani
Abd. Wahab, Noraziana
author_sort A.Talib, Norlelawati
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_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_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_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
publisher Malaysian Medical Association
publishDate 2014
url http://irep.iium.edu.my/36773/
http://irep.iium.edu.my/36773/
http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf
http://irep.iium.edu.my/36773/4/scopus.pdf
first_indexed 2023-09-18T20:52:43Z
last_indexed 2023-09-18T20:52:43Z
_version_ 1777410101209989120

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