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目的从DNA分子水平建立研究X染色体着丝粒区域的α-卫星DNA变异的方法,发现K linefelt综合征患者的X染色体着丝粒区域的α-卫星DNA串联重复序列结构变化与染色体不分离的关系。方法采用(representativesamp ling ofmu ltip le repetitive un its,rep)PCR方法,通过设计适当的引物,对α-卫星DNA多个单拷贝串联重复序列同时进行扩增,检测重复序列中结构变化的种类、频率及重组位点。结果首次发现由缺失产生的562 bp和220 bp变异片段和重组位点,异常组的570、562、220 bp构成显著高于正常组(P<0.05)。Logistic回归分析显示:570、562 bp和220 bp 3个短片段同时出现和任两个短片段同时出现均是疾病相关的危险因素。结论K linefelt综合征的X染色体着丝粒区α-卫星DNA过多的重组可能是造成X染色体不分离的重要原因之一。
OBJECTIVE: To establish a method to study the α-satellite DNA variation in the centromere region of X chromosome from DNA molecular level. It was found that the structural changes in α-satellite DNA tandem repeats of the X chromosome centromere region of K linefelt syndrome were not associated with chromosome segregation relationship. METHODS: A series of single-copy tandem repeat sequences of α-satellites DNA were amplified simultaneously by designing appropriate primers and detecting the types of structural changes in the repetitive sequences by using the PCR method. And recombination site. Results For the first time, the 562bp and 220bp fragments and recombination sites generated by deletion were found. The 570, 562 and 220 bp of the abnormal group were significantly higher than that of the normal group (P <0.05). Logistic regression analysis showed that the simultaneous appearance of three short segments of 570, 562 bp and 220 bp together with any two short segments were risk factors associated with the disease. Conclusion K linefelt syndrome X chromosome centromere α-satellite DNA over recombination may be caused by the X chromosome is not one of the important reasons.