本文選題：BPES + FOXL2基因��； 參考：《浙江大學》2010年碩士論文

【摘要】： 目的： 對8例先天性瞼裂狹窄綜合征(BPES)患者(兩個家系中4例,散發(fā)患者4例)FOXL2基因序列進行檢測,以明確突變位點及突變類型,預測突變引起的基因表達變化,提高疾病的診斷準確率并為基因治療的實施打下堅實的基礎。 方法： 采集BPES患者及家屬外周靜脈血5ml,提取血基因組DNA,共設計3對PCR引物,應用聚合酶鏈反應(PCR)和DNA測序技術對FOXL2基因編碼區(qū)域進行突變檢測。 結果： 兩個家系中4例患者均檢測到c.672_701dup30重復突變,散發(fā)患者中除一例未檢測到FOXL2基因突變外,其他三例患者分別檢測到c.655CT無義突變,c.370AG錯義突變和c.858_874dup17重復突變,家系中未患病者及散發(fā)病例的直系親屬中均未檢測到相應突變。 結論： 首次在散發(fā)BPES患者中發(fā)現FOXL2基因c.370 AG錯義突變和c.858_874dup17重復突變,擴展了FOXL2基因突變譜,在兩個家系中均發(fā)現c.672_701dup30重復突變,再次證明這一位點為BPES患者FOXL2基因突變熱點。未檢測到FOXL2基因突變的BPES患者可能與染色體畸變有關,有必要進行染色體分析。
[Abstract]:Objective: The sequence of FOXL2 gene was detected in 8 patients with congenital blepharostenosis syndrome (4 out of 2 families and 4 sporadic patients) in order to identify the mutation site and mutation type and predict the gene expression changes caused by mutation. To improve the diagnostic accuracy of disease and lay a solid foundation for the implementation of gene therapy. Methods: Genomic DNA was extracted from peripheral venous blood of BPES patients and their relatives. Three pairs of PCR primers were designed. The mutation of FOXL2 gene coding region was detected by polymerase chain reaction (PCR) and DNA sequencing. Results: C.672_701dup30 repeat mutations were detected in 4 patients in two families, except for one patient without FOXL2 gene mutation in sporadic patients, the missense mutation and c.858_874dup17 repeat mutation in c.655CT nonsense mutation / c. 370 AG and c.858_874dup17 repeat mutation were detected in the other three patients, respectively. No corresponding mutations were detected in the unaffected families and in the immediate relatives of sporadic cases. Conclusion: For the first time, FOXL2 gene c. 370 AG missense mutation and c.858_874dup17 repeat mutation were found in sporadic BPES patients, which extended the FOXL2 gene mutation spectrum, and c.672_701dup30 repeat mutation was found in both families. It was proved that this point was the hot spot of FOXL2 gene mutation in BPES patients. The BPES patients without FOXL2 gene mutation may be related to chromosome aberration, so it is necessary to carry out chromosome analysis.
【學位授予單位】：浙江大學
【學位級別】：碩士
【學位授予年份】：2010
【分類號】：R777

【參考文獻】

相關期刊論文 前1條

1 李武修;孫巖;;Forkhead轉錄因子超家族成員——FOXL2[J];口腔醫(yī)學研究;2006年02期

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本文編號：1851625