本文選題：單親二倍體 + 形成機制��； 參考：《重慶醫(yī)科大學》2014年碩士論文

【摘要】：目的：1）對復雜性和片段性單親二倍體的案例文獻報道進行綜述分析，以推導復雜性和片段性單親二倍體的形成機制；2）對一例染色體組全套單親二倍體導致胚胎早期停育病例進行基因芯片分析，探討遺傳咨詢方法。 方法：1）以UPD、uniparental為關鍵詞搜索pubmed數(shù)據(jù)庫，對搜索的文獻加以篩選，對所選的文獻加以分析，以推導復雜性、片段性單親二倍體的形成機制；2）取胚胎絨毛和父母外周血，采用基因芯片技術對基因組進行分析，根據(jù)結果判斷染色體異常發(fā)生原因，并探討遺傳咨詢方法。 結果：1）文獻檢索并篩選后，找到9例片段化單親二倍體，22例易位單親二倍體，39例等臂單親二倍體，21例復雜型染色體重排單親二倍體，根據(jù)以上病例分析，推導了各種片段化和復雜性單親二倍體的形成機制；2）胚胎停育標本檢測結果為染色體組全套單親二倍體，其父母未見明顯異常。 結論：1）對復雜性和片段性稀有單親二倍體案例的綜述分析，有利于幫助推導單親二倍體形成機制，可為進一步生物學研究和臨床診斷決定提供參考依據(jù)；2）根據(jù)胚胎及其父母的基因芯片結果可推斷該患者為偶然發(fā)生或環(huán)境引起的減數(shù)分裂異常（倒置、插入、非平衡易位等遺傳因素基因芯片不可檢測），在排除環(huán)境因素后可嘗試下一胎生育，，并需進行早期產(chǎn)前診斷。
[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.
【學位授予單位】：重慶醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R714.2

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1 劉婷婷;復雜性和片段性單親二倍體形成機制的研究及1例單親二倍體導致胚胎停育病例分析[D];重慶醫(yī)科大學;2014年

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