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 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

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Abstract

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.

Item Type:	Article (Journal)
Additional Information:	4667/36773
Uncontrolled Keywords:	inherited anti-thrombin deficiency, mutation, SERPINC 1
Subjects:	R Medicine > RB Pathology
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Basic Medical Kulliyyah of Science > Department of Biomedical Science
Depositing User:	Dr Norlelawati A.Talib
Date Deposited:	29 May 2014 15:54
Last Modified:	06 Apr 2022 10:14
URI:	http://irep.iium.edu.my/id/eprint/36773

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