Format

Send to

Choose Destination
J Clin Diagn Res. 2015 Feb;9(2):BC15-8. doi: 10.7860/JCDR/2015/10856.5579. Epub 2015 Feb 1.

Evidence of Paternal N5, N10 - Methylenetetrahydrofolate Reductase (MTHFR) C677T Gene Polymorphism in Couples with Recurrent Spontaneous Abortions (RSAs) in Kolar District- A South West of India.

Author information

1
Lecturer, Department of Anatomy, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research Kolar, Karnataka India .
2
Professor, Department of Biochemistry/ Head, Allied Health Sciences, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka India .
3
Professor & Head, Department of Obstetrics and Gynecology, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka India .
4
Professor, Department of Biochemistry/ Dean, Allied Health Sciences, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka India .
5
Senior Research Fellow/ Research Scholar, Department of Cell Biology and Molecular Genetics/ Biochemistry, Sri Devaraj Urs Academy of Higher Education and Research Kolar , Karnataka India .

Abstract

INTRODUCTION:

Recurrent spontaneous abortion (RSA) is a multifactorial clinical obstetrics complication commonly occurring in pregnancy. Many research studies have noted the mutations such as C677T in N5, N10 - Methylenetetrahydrofolate reductase (MTHFR)gene which is regarded as RSA risk factor. This study was carried out to determine the occurrence of frequency of C677T of the MTHFR gene mutations with RSA.

AIM:

The purpose of present study is to determine the frequency of MTHFR C677T polymorphisms in couples with recurrent pregnancy loss and the impact of paternal polymorphisms of MTHFR C677T in recurrent pregnancy loss in population of couples living in Kolar district of Karnataka with RSA.

DESIGN:

A total of 15 couples with a history of two or more unexplained RSA were enrolled as subjects in the study and a total of 15 couples with normal reproductive history, having two or more children and no history of miscarriages were enrolled as controls.

MATERIALS AND METHODS:

DNA extraction from samples case and control group couples and its quantification by Agarose gel electrophoresis, assessment of DNA purity, MTHFR C 677T gene mutation detection by PCR-RFLP method.

STATISTICAL ANALYSIS:

Carried out by web based online SPSS tool.

RESULTS:

The frequency of C677T genotype showed homozygous wild type CC (80%), heterozygous CT type (13.3%) and homozygous mutation TT type (6.67%) observed in males. Similarly from female's homozygous wild type CC (86.6%), heterozygous type (13.3%), and homozygous type mutations TT (0%) was recorded. In couple control groups, we observed homozygous wild type CC (86.6%), heterozygous CT type (13.3%) and homozygous type mutations TT type (0%).

CONCLUSION:

We noticed a high frequency of MTHFR specifically T allele associated with paternal side.Therefore, the present study indicated the impact of paternal gene polymorphism of MTHFR C677T on screening in couples with recurrent pregnancy loss.

KEYWORDS:

MTHFR A1298C; MTHFR C677T; Paternal polymorphism; RSA couples; T-allele

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center