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应用聚合酶链反应-限制性片段长度多态性分析筛查多囊卵巢综合征中转录因子7样2基因的多态性

Screening of Polymorphisms of Transcription Factor 7-like 2 Gene in Polycystic Ovary Syndrome using Polymerase Chain Reaction-restriction Fragment Length Polymorphism Analysis.

作者信息

Prabhu Yogamaya D, Sekar Nishu, Abilash V G

机构信息

Department of Biomedical Sciences, School of Bio Sciences and Technology, VIT, Vellore, Tamil Nadu, India.

Department of Biotechnology, FASH, Karpagam Academy of Higher Education, Coimbatore, Tamil Nadu, India.

出版信息

J Hum Reprod Sci. 2018 Apr-Jun;11(2):137-141. doi: 10.4103/jhrs.JHRS_123_15.

DOI:10.4103/jhrs.JHRS_123_15
PMID:30158809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6094535/
Abstract

BACKGROUND

Polycystic ovary syndrome (PCOS) is a common endocrine disorder occurring in premenopausal women, with a prevalence rate of 5%-7%. It has been observed in multiple number of studies the coexistence between diabetes mellitus 2 and obesity with this endocrinopathic disorder. Transcription factor 7-like 2 (TCF7L2) gene is shown to be associated with insulin secretion.

AIM

To screen whether the gene variant of TCF7L2 (formerly TCF4) gene is significantly associated and has susceptibilities with type 2 diabetes in PCOS. This study is essential to uncover diabetogenic association of the TCF7L2 gene variants with PCOS.

DESIGN

This was a hospital-based study.

METHODS

In this work, blood samples from 43 PCOS patients with age and sex similar to 43 control samples were collected, followed by isolation of DNA. Further genotyping of the TCF7L2 gene was carried out by performing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

STATISTICAL ANALYSIS

Genotype frequencies of the TCF7L2 rs7903146 gene were checked by Hardy-Weinberg equilibrium of genotype in both PCOS and the control group, and also, the frequencies of the genotype were performed accordingly.

RESULTS

There was no significant allelic variation observed among the patient and the control samples. From the patient details, it was observed that women between the age group of 21 and 25 years are susceptible to PCOS.

CONCLUSION

From the PCR-RFLP analysis, it can be stated that there are no expected gene polymorphisms seen in this study, unlike the study carried out on the Chinese population where they observed genotype variations CC, CT, and TT. From this study, we can conclude that TCF7L2 rs7903146 gene cannot be considered as the candidate gene for the occurrence of PCOS.

摘要

背景

多囊卵巢综合征(PCOS)是一种常见于绝经前女性的内分泌紊乱疾病,患病率为5%-7%。多项研究观察到2型糖尿病和肥胖与这种内分泌疾病并存。转录因子7样2(TCF7L2)基因显示与胰岛素分泌有关。

目的

筛查TCF7L2(原TCF4)基因的基因变异是否与PCOS中的2型糖尿病显著相关并具有易感性。本研究对于揭示TCF7L2基因变异与PCOS的致糖尿病关联至关重要。

设计

这是一项基于医院的研究。

方法

在这项工作中,收集了43例年龄和性别与43例对照样本相似的PCOS患者的血样,随后分离DNA。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对TCF7L2基因进行进一步基因分型。

统计分析

通过PCOS组和对照组基因型的哈迪-温伯格平衡检查TCF7L2 rs7903146基因的基因型频率,并相应地进行基因型频率分析。

结果

在患者和对照样本中未观察到显著的等位基因变异。从患者详细信息中观察到,21至25岁年龄组的女性易患PCOS。

结论

从PCR-RFLP分析可以看出,与对中国人群进行的研究不同,本研究中未观察到预期的基因多态性,在中国人群的研究中观察到了基因型变异CC、CT和TT。从本研究中,我们可以得出结论,TCF7L2 rs7903146基因不能被视为PCOS发生的候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/f2e9f4db557b/JHRS-11-137-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/7754c971a064/JHRS-11-137-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/ab4f61270a34/JHRS-11-137-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/f2e9f4db557b/JHRS-11-137-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/7754c971a064/JHRS-11-137-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/ab4f61270a34/JHRS-11-137-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/6094535/f2e9f4db557b/JHRS-11-137-g003.jpg

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