Lin28B遗传多态性与女性性早熟关联分析
发布时间：2019-03-26 10:30
【摘要】：青春期是从少年到成人的过渡时期,即从第二性征出现至性成熟及体格发育完善的一段时期。性早熟是男童或女童在特定的年龄界限前出现青春期发育的一种生长发育异常性疾病。我国对性早熟的定义：女童在8岁之前、男童在9岁前出现青春期发育即为性早熟。Lin28B是一种高度保守的RNA结合蛋白,是microRNA调节蛋白。2010年,《自然遗传学杂志》多篇论文利用大规模队列与高密度芯片解析出Lin28B基因是女性性早熟的易感基因。在中国人群里尚未明确该基因是否与性早熟相关。 本课题分别选取201个性早熟患者样本和198个正常人群样本,采用PCR-LDR分型方法对Lin28B基因的7个多态性位点进行分型,最后用统计学软件计算单倍型频率和多态性位点分布情况,目的是找到与该性状相关的位点,该研究可以帮助探索性早熟病因。 本研究发现基因型rs314276C/A与rs369065T/C与性早熟之间存在着显著相关性,基因位点rs314263, rs314276与rs369065与性早熟存在显著相关性,单倍型Lin28B-GTTC、Lin28B-ACCT与Lin28B-GTCC与性早熟存在显著相关性,Lin28B基因5’上游序列携带有GTTC这个单倍型的性早熟发病率是其它单倍型发病率的1.793倍(大于1),表明携带该单倍型的女性患性早熟的相对危险性很高。这些结果帮助我们认识Lin28B基因在性发育启动过程中的作用,也为女性真性性早熟的遗传诊断与Lin28B的基因功能研究奠定了基础。
[Abstract]:Adolescence is a transitional period from adolescence to adult, that is, from secondary sexual character to sexual maturity and perfect physical development. Precocious puberty is an abnormal growth and development disease which occurs in boys or girls before certain age limits. The definition of precocious puberty in China: girls before the age of 8 and boys before the age of 9 are precocious puberty. Lin28B is a highly conservative RNA binding protein, which is a microRNA regulatory protein. Large-scale cohort and high-density chip were used to identify Lin28B gene as a precocious gene in female precocious puberty. In China, it is not clear whether the gene is associated with precocious puberty. In this study, 201 samples of precocious puberty patients and 198 normal subjects were selected, and 7 polymorphic loci of Lin28B gene were genotyped by PCR-LDR typing method. Finally, the frequency of haplotype and the distribution of polymorphic loci were calculated by statistical software in order to find out the loci related to this trait. This study can help to explore the etiology of precocious puberty. In this study, we found that there was a significant correlation between genotype rs314276C/A and rs369065T/C and precocious puberty, rs314263, rs314276 and rs369065 were significantly correlated with precocious puberty, and haplotype Lin28B-GTTC,Lin28B-ACCT and Lin28B-GTCC were significantly correlated with precocious puberty. The incidence of precocious puberty with GTTC haplotype in the upstream sequence of Lin28B gene was 1.793 times higher than that of other haplotypes (> 1), indicating that women carrying the haplotype had a high relative risk of precocious puberty. These results help us to understand the role of Lin28B gene in the initiation of sexual development and lay the foundation for the genetic diagnosis of female real precocious puberty and the study of gene function of Lin28B.
【学位授予单位】：东华大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.8
本文编号：2447458
[Abstract]:Adolescence is a transitional period from adolescence to adult, that is, from secondary sexual character to sexual maturity and perfect physical development. Precocious puberty is an abnormal growth and development disease which occurs in boys or girls before certain age limits. The definition of precocious puberty in China: girls before the age of 8 and boys before the age of 9 are precocious puberty. Lin28B is a highly conservative RNA binding protein, which is a microRNA regulatory protein. Large-scale cohort and high-density chip were used to identify Lin28B gene as a precocious gene in female precocious puberty. In China, it is not clear whether the gene is associated with precocious puberty. In this study, 201 samples of precocious puberty patients and 198 normal subjects were selected, and 7 polymorphic loci of Lin28B gene were genotyped by PCR-LDR typing method. Finally, the frequency of haplotype and the distribution of polymorphic loci were calculated by statistical software in order to find out the loci related to this trait. This study can help to explore the etiology of precocious puberty. In this study, we found that there was a significant correlation between genotype rs314276C/A and rs369065T/C and precocious puberty, rs314263, rs314276 and rs369065 were significantly correlated with precocious puberty, and haplotype Lin28B-GTTC,Lin28B-ACCT and Lin28B-GTCC were significantly correlated with precocious puberty. The incidence of precocious puberty with GTTC haplotype in the upstream sequence of Lin28B gene was 1.793 times higher than that of other haplotypes (> 1), indicating that women carrying the haplotype had a high relative risk of precocious puberty. These results help us to understand the role of Lin28B gene in the initiation of sexual development and lay the foundation for the genetic diagnosis of female real precocious puberty and the study of gene function of Lin28B.
【学位授予单位】：东华大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.8
【参考文献】
相关期刊论文 前1条
1 蔡德培;补肾中药治疗女性性早熟的研究[J];中国中西医结合杂志;1999年03期
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