复杂性和片段性单亲二倍体形成机制的研究及1例单亲二倍体导致胚胎停育病例分析

发布时间：2018-06-22 20:42

本文选题：单亲二倍体 + 形成机制　；参考：《重庆医科大学》2014年硕士论文

【摘要】：目的：1）对复杂性和片段性单亲二倍体的案例文献报道进行综述分析，以推导复杂性和片段性单亲二倍体的形成机制；2）对一例染色体组全套单亲二倍体导致胚胎早期停育病例进行基因芯片分析，探讨遗传咨询方法。方法：1）以UPD、uniparental为关键词搜索pubmed数据库，对搜索的文献加以筛选，对所选的文献加以分析，以推导复杂性、片段性单亲二倍体的形成机制；2）取胚胎绒毛和父母外周血，采用基因芯片技术对基因组进行分析，根据结果判断染色体异常发生原因，并探讨遗传咨询方法。结果：1）文献检索并筛选后，找到9例片段化单亲二倍体，22例易位单亲二倍体，39例等臂单亲二倍体，21例复杂型染色体重排单亲二倍体，根据以上病例分析，推导了各种片段化和复杂性单亲二倍体的形成机制；2）胚胎停育标本检测结果为染色体组全套单亲二倍体，其父母未见明显异常。结论：1）对复杂性和片段性稀有单亲二倍体案例的综述分析，有利于帮助推导单亲二倍体形成机制，可为进一步生物学研究和临床诊断决定提供参考依据；2）根据胚胎及其父母的基因芯片结果可推断该患者为偶然发生或环境引起的减数分裂异常（倒置、插入、非平衡易位等遗传因素基因芯片不可检测），在排除环境因素后可尝试下一胎生育，，并需进行早期产前诊断。
[Abstract]:Objective: to summarize and analyze the cases of complex and piecewise single parent diploid in order to deduce the formation mechanism of complexity and fragment single parent diploid. 2) A single parent diploid case with chromosome group was analyzed by microarray analysis and genetic counseling method was discussed. Methods: using update uniparental as the key word to search pubmed database, the selected literatures were screened, and the selected literatures were analyzed to deduce the complexity. 2) the embryonic villi and the peripheral blood of parents were taken. The genomes were analyzed by gene chip technique, and the cause of chromosomal abnormality was judged according to the results, and the genetic counseling method was discussed. Results after the literature was searched and screened, 9 cases of segmented single parent diploid 22 cases of translocation single parent diploid 39 cases of isobaric single parent diploid and 21 cases of complex chromosome rearrangement single parent diploid were found. The formation mechanism of various fragmentation and complexity of single parent diploid was deduced. 2) the result of embryo aborted specimen was a complete set of single parent diploid in chromosome group, and its parents had no obvious abnormality. Conclusion: the review and analysis of complex and piecewise rare single parent diploid cases are helpful to deduce the mechanism of single parent diploid formation and provide reference for further biological research and clinical diagnosis decision. 2) based on the microarray results of the embryo and its parents, it can be inferred that the patient is an abnormal meiosis caused by accident or environment. Unbalance translocation and other genetic factors can not be detected by microarray), after excluding environmental factors, we can try to give birth to the next child, and need to make early prenatal diagnosis.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R714.2

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