圆锥动脉干畸形遗传学研究

发布时间：2018-01-04 08:43

本文关键词：圆锥动脉干畸形遗传学研究　出处：《中国协和医科大学》2006年博士论文　论文类型：学位论文

【摘要】：第一部分非综合征性圆锥动脉干畸形中染色体22q11.2缺失调查 [目的] 调查中国人非综合征性圆锥动脉干畸形患者染色体22q11.2微缺失发生情况。 [方法] 运用荧光原位杂交方法对36名非综合征性圆锥动脉干畸形患儿血液标本染色体22q11.2微缺失进行检查，其中男性23例、女性13例，年龄2.74±2.50岁(0.03-11.00岁)，病种为法乐氏四联征21例、右室双出口9例、先天性校正性大动脉转位1例、肺动脉闭锁合并室间隔缺损1例、完全性大动脉转位4例。探针为N25／N85A3探针。 [结果] 3名患儿(8.33％)存在染色体22q11.2微缺失，，其中2例为法乐氏四联征，1例为右心室双出口合并肺动脉狭窄。 [结论] 染色体22q11.2微缺失为部分非综合征性圆锥动脉干畸形患者的致病原因。第二部分短串联重复序列基因分型行22q11.2缺失调查的方法学研究 [目的] 研究短串联：重复序列基因分型染色体22q11.2微缺失筛查方法的可行性。 [方法] 研究对象同第一部分。选取22q11.2中D22S1638、D22S1648、D22S941、D22S944、D22S1623、D22S264、D22S311、D22S1709等8个短串联重复序列，通过PCR方法对该8个短串联重复序列进行基因分型。计算各短串联重复序列杂合度和纯合度以及按杂合度大小依次引入短串联重复序列后不同短串联重复序列组合纯合状态发生率和与FISH相比染色体22q11.2微缺失诊断特异性。 [结果] 各短串联重复序列杂合度、纯合度分别为：D22S1638 0.3333 0.6667、D22S1648 0.4848 0.5152、D22S941 0.3333 0.6667、D22S944 0.2424 0.7576、D22S1623 0.4545 0.5455、D22S264 0.6061 0.3939、D22S311 0.4545 0.5455、D22S1709 0.0606 0.9394；按杂合度大小依次引入短串联重复序列D22S264、
[Abstract]:A survey of chromosome 22q11.2 deletion in the first part of non - syndrotic conical arterioles Objective : To investigate the occurrence of microdeletions of chromosome 22q11.2 in patients with non - syndrome of non - syndrome in Chinese patients . Methods The chromosome 22q11.2 was examined by fluorescence in situ hybridization ( FISH ) in 36 children with non - nephrotic syndrome , including 23 males and 13 females . The age was 2.74 卤 2.50 years ( 0.03 - 11.00 years ) . There were 21 patients with tetralogy of Fallot , 9 in right ventricle , 1 with congenital correction , 1 with pulmonary atresia , 4 with complete large artery transposition , and N25 / N85A3 probe . Results The chromosome 22q11.2 was absent in 3 children ( 8.33 % ) , 2 of them were Fallot ' s syndrome , 1 case was right ventricle double outlet and pulmonary artery stenosis . Conclusion : 22q11.2 microdeletion of chromosome 22q11.2 is the pathogenic factor in patients with partial non - syndrome . The methodological study of the second part short tandem repeat sequence genotyping line 22q11.2 deletion investigation Objective To investigate the feasibility of short tandem repeat genotyping chromosome 22q11.2 microdeletion screening method . Methods Eight short tandem repeat sequences of D22S1638 , D22S1648 , D22S941 , D22S944 , D22S1623 , D22S941 , D22S944 , D22S1623 , D22S941 , D22S944 , D22S1623 , D22S264 , D22S944 , D22S1709 and the like were genotyped by PCR . The results showed that : D22S1638 0.3333 0.6667 , D22S1648 0.4848 0.5152 , D22S941 0.3333 0.6667 , D22S944 0.2424 0.7576 , D22S1623 0.445 0.5455 , D22S264 0.0600.3939 , D2230.445 0.5455 , D22S1709 0.0606 0.9394 , and the short tandem repeat sequence D22S264 was successively introduced according to the size of heterozygosity .

【学位授予单位】：中国协和医科大学
【学位级别】：博士
【学位授予年份】：2006
【分类号】：R394

【参考文献】