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目的通过对乌鲁木齐市98例汉族育龄女性脆性X智力低下1(FMR1)基因(CGG)n进行检测分析,为本地区脆性X综合征(FXS)的预警和产前筛查提供理论依据。方法提取基因组DNA、应用AmplideX~(TM) FMR1 PCR专利技术进行PCR扩增以及毛细管电泳技术对血液标本进行FMR1基因(CGG)n重复基因进行检测,并对数据进行统计分析。结果乌鲁木齐市汉族育龄女性的FMR1基因中最常见的CGG重复数为29(41.33%),其次为30(28.06%)。检出FMR1基因的突变灰色区域携带者1例,本市汉族育龄女性FMR1基因突变灰色区域携带率为1/98。结论新疆乌鲁木齐市汉族育龄女性FMR1基因突变携带率较之前中国其他地区及亚洲其他国家的研究结果偏高,但明显低于欧美地区突变携带率的报道。
OBJECTIVE: To provide a theoretical basis for early warning and prenatal screening of Fragile X syndrome (FXS) in 98 Han women of childbearing age in Urumqi by detecting and analyzing the FMR1 gene (CGG) n. Methods The genomic DNA was extracted and the FMR1 gene (CGG) n repeat gene was amplified by PCR amplification and capillary electrophoresis with AmplideX ~ (TM) FMR1 PCR. The data were statistically analyzed. Results The most common CGG repeat number of FMR1 in Han nationality women of Urumqi was 29 (41.33%), followed by 30 (28.06%). One case of mutation in the gray region of the FMR1 gene was detected. The gray region carrying rate of the FMR1 gene of the female of child-bearing age in Han city of this city was 1/98. Conclusion The prevalence of FMR1 gene mutation among Han nationality women of childbearing age in Urumqi, Xinjiang was higher than that of previous studies in other regions of China and other Asian countries, but it was significantly lower than that of the mutation carrying rate in Europe and the United States.