Vanilla Shiny, Dayanand C D, Kotur Pushpa F, Kutty Moideen A, Vegi Pradeep Kumar
Lecturer, Department of Anatomy, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research Kolar, Karnataka India .
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 .
J Clin Diagn Res. 2015 Feb;9(2):BC15-8. doi: 10.7860/JCDR/2015/10856.5579. Epub 2015 Feb 1.
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.
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.
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.
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.
Carried out by web based online SPSS tool.
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%).
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.
复发性自然流产（RSA）是妊娠期间常见的多因素临床产科并发症。许多研究都注意到N5、N10-亚甲基四氢叶酸还原酶（MTHFR）基因中的C677T等突变被视为RSA的危险因素。本研究旨在确定MTHFR基因突变的C677T频率与RSA的发生情况。
本研究的目的是确定卡纳塔克邦科拉尔地区患有复发性流产的夫妇中MTHFR C677T多态性的频率，以及MTHFR C677T父系多态性对患有RSA的夫妇群体复发性流产的影响。
共有15对有两次或更多次不明原因RSA病史的夫妇被纳入研究作为受试者，另有15对生殖史正常、育有两个或更多子女且无流产史的夫妇被纳入作为对照组。
从病例组和对照组夫妇的样本中提取DNA，并通过琼脂糖凝胶电泳进行定量、评估DNA纯度，采用PCR-RFLP方法检测MTHFR C 677T基因突变。
通过基于网络的在线SPSS工具进行。
在男性中观察到C677T基因型的频率为纯合野生型CC（80%）、杂合子CT型（13.3%）和纯合突变TT型（6.67%）。同样，在女性中记录到纯合野生型CC（86.6%）、杂合子型（13.3%）和纯合子型突变TT（0%）。在夫妇对照组中，我们观察到纯合野生型CC（86.6%）、杂合子CT型（13.3%）和纯合子型突变TT型（0%）。
我们注意到MTHFR特别是T等位基因在父系方面的频率较高。因此，本研究表明MTHFR C677T父系基因多态性对复发性流产夫妇筛查的影响。
