Lin28B遺傳多態(tài)性與女性性早熟關聯(lián)分析
發(fā)布時間：2019-03-26 10:30
【摘要】：青春期是從少年到成人的過渡時期,即從第二性征出現(xiàn)至性成熟及體格發(fā)育完善的一段時期。性早熟是男童或女童在特定的年齡界限前出現(xiàn)青春期發(fā)育的一種生長發(fā)育異常性疾病。我國對性早熟的定義：女童在8歲之前、男童在9歲前出現(xiàn)青春期發(fā)育即為性早熟。Lin28B是一種高度保守的RNA結合蛋白,是microRNA調節(jié)蛋白。2010年,《自然遺傳學雜志》多篇論文利用大規(guī)模隊列與高密度芯片解析出Lin28B基因是女性性早熟的易感基因。在中國人群里尚未明確該基因是否與性早熟相關。 本課題分別選取201個性早熟患者樣本和198個正常人群樣本,采用PCR-LDR分型方法對Lin28B基因的7個多態(tài)性位點進行分型,最后用統(tǒng)計學軟件計算單倍型頻率和多態(tài)性位點分布情況,目的是找到與該性狀相關的位點,該研究可以幫助探索性早熟病因。 本研究發(fā)現(xiàn)基因型rs314276C/A與rs369065T/C與性早熟之間存在著顯著相關性,基因位點rs314263, rs314276與rs369065與性早熟存在顯著相關性,單倍型Lin28B-GTTC、Lin28B-ACCT與Lin28B-GTCC與性早熟存在顯著相關性,Lin28B基因5’上游序列攜帶有GTTC這個單倍型的性早熟發(fā)病率是其它單倍型發(fā)病率的1.793倍(大于1),表明攜帶該單倍型的女性患性早熟的相對危險性很高。這些結果幫助我們認識Lin28B基因在性發(fā)育啟動過程中的作用,也為女性真性性早熟的遺傳診斷與Lin28B的基因功能研究奠定了基礎。
[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.
【學位授予單位】：東華大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R725.8
本文編號：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.
【學位授予單位】：東華大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R725.8
【參考文獻】
相關期刊論文 前1條
1 蔡德培;補腎中藥治療女性性早熟的研究[J];中國中西醫(yī)結合雜志;1999年03期
，本文編號：2447458
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