Manuscript Title:

MOLECULAR CHARACTERIZATION OF THROMBOPHILIA MUTATIONS IN PAKISTANI FEMALES: ROLE OF FACTOR V- LEIDEN IN CAUSING PREECLAMPSIA

Author:

AZIZAH ZIAUDDIN, SADIA AHMAD, REHANA BADAR, Dr. ABDUL MAJID KHAN, Dr. SHAHID MAHMOOD BAIG, MUHAMMAD WAJID

DOI Number:

DOI:10.17605/OSF.IO/XSN2Q

Published : 2023-02-10

About the author(s)

1. AZIZAH ZIAUDDIN - Institute of Zoology, University of the Punjab, Pakistan.
2. SADIA AHMAD - Allama Iqbal Medical College, Jinnah Hospital, Lahore, Pakistan.
3. REHANA BADAR - Institute of Molecular Biology and Biotechnology (IMBB), the University of Lahore, Lahore, Pakistan & Department of Biological Sciences, Superior University, Lahore, Punjab, Pakistan.
4. Dr. ABDUL MAJID KHAN - Associate professor, Institute of Zoology, University of the Punjab, Lahore, Pakistan.
5. Dr. SHAHID MAHMOOD BAIG - National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan & Chairman, Pakistan Science Foundation at Ministry of Science and Technology, Pakistan
6. MUHAMMAD WAJID - Department of Zoology, university of Okara, Okara, Punjab, Pakistan.

Full Text : PDF

Abstract

The aim of this study is to analyze the prevalence of thrombophilic mutations in Pakistani pregnant females. A total of 2000 pregnant females registered in Gynae unit II, Jinnah Hospital, Allama Iqbal medical college with pregnancy induced hypertension during Aug 2016 to Aug 2020 are included in this study. The hypertension of these patients was characterized on basis of disease severity, proteinuria and platelet count etc. After approval from ethical committee and taking informed consent, the total of 100 pregnant females diagnosed with preeclampsia and 100 healthy control pregnant females which fulfill the inclusion criteria of the study were included for mutational analysis. The demographic and medical details of these patients were recorded. The mutational analysis is done by using tetra ARMS PCR. The single nucleotide polymorphism i.e Factor V Leiden G1691A, MTHFR C677T, MTHFR A1298C, FII G20210A was studied in all samples. The prevalence of Factor V Leiden is 60%, MTHFR C677T 69%, FII G20210A 52%, while MTHFR A1298C is 5 % in cases. This is first case control study to identify the role thrombophilia mutations in Pakistani pregnant females affected with preeclampsia. This study confirms the role of hereditary thrombophilia in progression of preeclampsia in pregnant females of Pakistan, the heterozygous form of FV- Leiden and MTHFR C677T and FII G20210A are more prevalent in Pakistani pregnant females presented with preeclampsia, this particular thrombophilia marker can be used for early diagnosis of preeclampsia in clinical practices as genetic risk factors in low socioeconomic background of Pakistan.


Keywords

Preeclampsia, Pregnancy induced hypertension, Eclampsia, FV-Leiden, Prothrombin, methylenetetrahydrofolate reductase.