本文選題：FMR1基因 + 脆性X綜合征�。� 參考：《石河子大學(xué)》2017年碩士論文

【摘要】：目的:對烏魯木齊市漢族育齡女性脆性X智力低下1(FMR1)基因突變情況進行檢測及統(tǒng)計分析,為脆性X綜合征(FXS)相關(guān)遺傳咨詢、孕前及產(chǎn)前診斷提供依據(jù)。方法:募集2015年6月至2016年9月就診的烏魯木齊市漢族育齡女性中符合研究目的的婦女作為目標人群,簽署《患者知情同意書》,抽取外周血,提取基因組DNA,應(yīng)用AmplideX?FMR1 PCR專利技術(shù)進行PCR擴增以及毛細管電泳,進行FMR1基因(CGG)n重復(fù)數(shù)檢測。采用國際分類標準將受檢女性分為陰性組及陽性組進行FMR1基因變異與卵巢功能不全的相關(guān)性研究,使用Χ2檢驗進行統(tǒng)計分析。結(jié)果:1.烏魯木齊市漢族育齡女性的FMR1基因檢測得到24種不同的等位基因,CGG重復(fù)數(shù)目的變異范圍為N=19~51次,其中最常見的CGG重復(fù)數(shù)N為29(43.46%),其次為30(27.69%)。2.檢出FMR1基因突變中間型(N=45-54)攜帶者1例,攜帶率為1/130。將中間型范圍擴大到N=40-54次時,檢測出中間型攜帶者7例,攜帶率為7/130。3.FMR1基因變異與卵巢功能不全相關(guān)性研究,Χ2=10.625,P0.05。結(jié)論:1.應(yīng)用AmplideX?FMR1 PCR技術(shù)進行FMR1基因(CGG)n重復(fù)數(shù)檢測省時省力,結(jié)果可靠,可以用作大樣本的篩查。2.新疆烏魯木齊市漢族育齡女性FMR1基因突變的發(fā)病情況與其他基于亞洲人群的研究結(jié)果基本相似,當(dāng)中間型被定義為CGG重復(fù)次數(shù)N=40-54(次)時,其攜帶率明顯高于亞洲地區(qū)的報道,與歐洲報道的結(jié)果相近。3.FMR1基因突變可能與卵巢功能不全相關(guān),FMR1基因CGG三核苷酸序列重復(fù)次數(shù)在26到34之間脆性X相關(guān)卵巢功能正常,超過26-34以外的CGG重復(fù)可能是發(fā)生卵巢功能不全的高危因素。
[Abstract]:Objective: to detect and analyze the mutation of fragile X mental retardation (1FMR1) gene in women of childbearing age of Han nationality in Urumqi, so as to provide evidence for genetic counseling and prenatal diagnosis of fragile X syndrome. Methods: from June 2015 to September 2016, women of childbearing age of Han nationality from June 2015 to September 2016 in Urumqi were recruited as the target population, and the patients' informed consent was signed and peripheral blood was drawn. Genomic DNA was extracted. PCR amplification and capillary electrophoresis were used to detect the CGGN repeats of FMR1 gene. The relationship between FMR1 gene mutation and ovarian dysfunction was studied by using the international classification standard. The FMR1 gene mutation and ovarian dysfunction were studied by using the X 2 test to analyze the relationship between FMR1 gene mutation and ovarian dysfunction. The result is 1: 1. FMR1 gene was detected in females of childbearing age in Urumqi city. The variation range of 24 different alleles was 1 951 times, in which the most common number of CGG repeats N was 2943.46 and the second was 3027.69g. One carrier with FMR1 gene mutation was detected, and the carrier rate was 1 / 130. When the range of intermediate type was expanded to 40 ~ 54 times, 7 cases of intermediate type carriers were detected. The rate of carrying was 7 / 130.3.The correlation between FMR1 gene mutation and ovarian dysfunction was studied, X = 210.625 (P0.05). Conclusion 1. Amplide XFMR1 PCR was used to detect the CGGN repeats of FMR1 gene. The results were reliable and could be used as a screening method for large samples. 2. The prevalence of FMR1 gene mutation in Han women of childbearing age in Urumqi, Xinjiang, was similar to that of other Asian population. When the intermediate type was defined as the number of CGG repeats, the carrier rate of FMR1 gene was significantly higher than that reported in Asia. The results were similar to those reported in Europe. 3. The mutation of FMR1 gene may be associated with ovarian dysfunction. The number of repeats of CGG trinucleotide sequence of FMR1 gene is between 26 and 34. More than 26-34 CGG repeats may be a risk factor for ovarian dysfunction.
【學(xué)位授予單位】：石河子大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R714.5

【參考文獻】

相關(guān)期刊論文 前10條

1 張有成;王和;;中國西南一城市智力低下人群中脆性X綜合征發(fā)病率調(diào)查（英文）[J];遵義醫(yī)學(xué)院學(xué)報;2016年03期

2 黃麗薩;周義文;;FMR1基因突變與女性生殖能力相關(guān)性的研究進展[J];中國婦幼健康研究;2016年S1期

3 唐利芳;肖冰;徐燕;季星;蔣雯婷;劉曉青;陶炯;;脆性X綜合征FMR1基因AGG排布式分析[J];中華醫(yī)學(xué)遺傳學(xué)雜志;2015年01期

4 肖家鵬;涂知明;;脆性X綜合征(fragile X syndrome)的分子機理研究[J];中國優(yōu)生與遺傳雜志;2013年06期

5 張嵐;章遠志;;中國女性對于FMR1突變產(chǎn)前篩查的態(tài)度調(diào)查(英文)[J];中國優(yōu)生與遺傳雜志;2012年05期

6 胡華;包碧慧;姚宏;胡華梅;董艷玲;常青;梁志清;;Slowdown PCR法產(chǎn)前快速篩查脆性X綜合征[J];中國優(yōu)生與遺傳雜志;2011年11期

7 唐春;岑超群;鄒園園;鄒小兵;陳爭;;脆性X綜合征26例兒童臨床特征[J];中國神經(jīng)精神疾病雜志;2011年10期

8 姚英民;池秀芳;張紅琴;楊明;陳瑤;;脆性X智力低下一號基因啟動子雙熒光素酶報告基因的構(gòu)建及活性測定[J];中國優(yōu)生與遺傳雜志;2011年09期

9 劉賢;陳彥平;周雪;王雪萊;孫蒙;梁爽;武麗杰;;漢族孤獨癥譜系障礙兒童脆性X基因突變研究[J];中國兒童保健雜志;2011年08期

10 魏婷婷;周東蕊;張紅琳;付文忠;張仁敏;杜彩賀;胡芳;;脆性X染色體綜合征的臨床檢測方法研究[J];南京曉莊學(xué)院學(xué)報;2011年03期

相關(guān)博士學(xué)位論文 前4條

1 郭婷;DNA損傷修復(fù)相關(guān)基因CSB-PGBD3、MSH5和FMHR1在卵巢早衰發(fā)病中的作用機制研究[D];山東大學(xué);2015年

2 富顯果;FMR1基因的可變剪接及其意義[D];福建醫(yī)科大學(xué);2014年

3 張雄;FMR1基因突變在中國大陸PD人群中的研究與分析[D];福建醫(yī)科大學(xué);2012年

4 竺智偉;脆性X綜合征的篩查、診斷和社會適應(yīng)能力及Fmr1基因敲除小鼠的神經(jīng)機制研究[D];浙江大學(xué);2012年

相關(guān)碩士學(xué)位論文 前1條

1 葉玉琴;Adiponectin、FMR1基因與特發(fā)性卵巢早衰的相關(guān)性研究[D];南京醫(yī)科大學(xué);2013年

，

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