乌鲁木齐市汉族育龄女性FMR1基因（CGG）n序列变异检测及分析

发布时间：2018-06-21 13:31

本文选题：FMR1基因 + 脆性X综合征　；参考：《石河子大学》2017年硕士论文

【摘要】：目的:对乌鲁木齐市汉族育龄女性脆性X智力低下1(FMR1)基因突变情况进行检测及统计分析,为脆性X综合征(FXS)相关遗传咨询、孕前及产前诊断提供依据。方法:募集2015年6月至2016年9月就诊的乌鲁木齐市汉族育龄女性中符合研究目的的妇女作为目标人群,签署《患者知情同意书》,抽取外周血,提取基因组DNA,应用AmplideX?FMR1 PCR专利技术进行PCR扩增以及毛细管电泳,进行FMR1基因(CGG)n重复数检测。采用国际分类标准将受检女性分为阴性组及阳性组进行FMR1基因变异与卵巢功能不全的相关性研究,使用Χ2检验进行统计分析。结果:1.乌鲁木齐市汉族育龄女性的FMR1基因检测得到24种不同的等位基因,CGG重复数目的变异范围为N=19~51次,其中最常见的CGG重复数N为29(43.46%),其次为30(27.69%)。2.检出FMR1基因突变中间型(N=45-54)携带者1例,携带率为1/130。将中间型范围扩大到N=40-54次时,检测出中间型携带者7例,携带率为7/130。3.FMR1基因变异与卵巢功能不全相关性研究,Χ2=10.625,P0.05。结论:1.应用AmplideX?FMR1 PCR技术进行FMR1基因(CGG)n重复数检测省时省力,结果可靠,可以用作大样本的筛查。2.新疆乌鲁木齐市汉族育龄女性FMR1基因突变的发病情况与其他基于亚洲人群的研究结果基本相似,当中间型被定义为CGG重复次数N=40-54(次)时,其携带率明显高于亚洲地区的报道,与欧洲报道的结果相近。3.FMR1基因突变可能与卵巢功能不全相关,FMR1基因CGG三核苷酸序列重复次数在26到34之间脆性X相关卵巢功能正常,超过26-34以外的CGG重复可能是发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.
【学位授予单位】：石河子大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R714.5

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