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1、 博士學(xué)位論文法洛四聯(lián)癥患者 法洛四聯(lián)癥患者 Nkx2.5、ISLet1 和 MTHFR基因篩查 基因篩查 王琦光 學(xué) 號(hào) 1142008220 培 養(yǎng) 類(lèi) 別 全日制 學(xué) 位 類(lèi) 型 學(xué)術(shù)學(xué)位 一級(jí)學(xué)科(專(zhuān)業(yè)類(lèi)) 臨床醫(yī)學(xué) 二 級(jí) 學(xué) 科 ( 專(zhuān) 業(yè) ) 內(nèi)科學(xué)(心血管病學(xué)) 研 究 方 向 先天性心臟病與遺傳 指 導(dǎo) 教 師 朱鮮陽(yáng)教授(主任醫(yī)師) 培 養(yǎng) 單 位 第四軍醫(yī)大學(xué)第一附屬醫(yī)院 沈陽(yáng)軍區(qū)總醫(yī)院 二
2、O 一四年五月 分 類(lèi) 號(hào) R541.1 U D C 612.1 密 級(jí) 公開(kāi) 第 四 軍 醫(yī) 大 學(xué)The Fourth Military Medical University第四軍醫(yī)大學(xué)博士學(xué)位論文 目 錄 縮略語(yǔ)表 縮略語(yǔ)表················
3、83;····································&
4、#183;····································
5、;···································· 1
6、中文摘要 中文摘要···································&
7、#183;····································
8、;····································
9、83;················· 2 ABSTRACT ·················&
10、#183;····································
11、;····································
12、83;····························· 6 前 言·····
13、3;····································
14、183;····································
15、····································
16、3;·········11 文獻(xiàn)回顧 文獻(xiàn)回顧·························
17、183;····································
18、····································
19、3;························· 14 正 文·········
20、3;····································
21、183;····································
22、····································
23、3;···· 22 第一部分 第一部分 TOF 患者 患者 NKX2.5,ISLET 1 和 MTHFR 基因外顯子變異位點(diǎn)檢測(cè) 基因外顯子變異位點(diǎn)檢測(cè)····· 22 1 材料··············
24、183;····································
25、····································
26、3;·······························22 2 方法····&
27、#183;····································
28、;····································
29、83;····································&
30、#183;····30 3 結(jié)果······························
31、3;····································
32、183;····································
33、···············37 4 討論····················
34、83;····································&
35、#183;····································
36、;·························42 第二部分 第二部分 ISLET 1 基因 基因 E137K 先證者家系調(diào)查 先證者家系調(diào)查···
37、83;····································&
38、#183;·············· 49 1 材料····················
39、83;····································&
40、#183;····································
41、;·························49 2 方法··········
42、183;····································
43、····································
44、3;···································50 3 結(jié)果&
45、#183;····································
46、;····································
47、83;····································&
48、#183;········50 4 討論··························
49、3;····································
50、183;····································
51、···················55 第三部分 第三部分 MTHFR 基因 基因 C.C1333T SNP 與 CHD 發(fā)病風(fēng)險(xiǎn)相關(guān)性研究 發(fā)病風(fēng)險(xiǎn)相關(guān)性研究·······
52、········ 60 1 材料···························
53、183;····································
54、····································
55、3;··················60 2 方法·················&
56、#183;····································
57、;····································
58、83;····························61 3 結(jié)果·······
59、····································
60、3;····································
61、183;····································
62、··62 4 討論·································
63、83;····································&
64、#183;····································
65、;············65 小 結(jié)·······················
66、····································
67、3;····································
68、183;··························· 69 參考文獻(xiàn) 參考文獻(xiàn)·······
69、;····································
70、83;····································&
71、#183;····································
72、;······· 70 個(gè)人簡(jiǎn)歷和研究成果 個(gè)人簡(jiǎn)歷和研究成果·························
73、3;····································
74、183;····································
75、····· 81 致 謝······························
76、····································
77、3;····································
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