| 成人型多囊肾病儿童期发病机理初探 |
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| 引用本文： | 张军,高翼之,鲁晓瑄,茅一萍,王世浚,曾建新. 成人型多囊肾病儿童期发病机理初探[J]. 上海铁道大学学报(医科版), 1995, 0(1) |
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| 作者姓名： | 张军 高翼之 鲁晓瑄 茅一萍 王世浚 曾建新 |
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| 作者单位： | 上海铁道医学院基础医学部生物学教研室(张军),南京铁道医学院(高翼之,鲁晓瑄,茅一萍,王世浚),福建省福清市医院(曾建新) |
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| 基金项目： | 铁道部科研基金,上海市高教局青年教师基金,江苏省计划生育委员会资助 |
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| 摘 要： | 本文利用α-珠蛋白基因3-HVR探针对一个存在儿童期发病的成人型囊肾病(adult polycystic kidney disease,APKD)家系进行研究,发现该家系中APKD的发生是由于AP-KD1基因突变所致。但是APKD1基因突变本身并不足以导致该病的早发。结果提示APKD在儿童期的早发可能是其它遗传因素或环境因素共同作用的结果,或是基因组印记对APKD突变基因表达的修饰作用所致。
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| 关 键 词： | 成人型多囊肾病 探针 基因组印记 |
ANALYSIS OF THE MECHANISMS OF THE ONSET OF APKD IN CHILDHOOD |
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| Zhang Jun Gao Yizhi Lu Xiaoxuan Mao Yiping Wang Shijun Zen Jianxin Dept. of Biology,Shanghai Railway Medical College Nanjing Railway Medical College Hospital of Fuqin City,Fujian Province. ANALYSIS OF THE MECHANISMS OF THE ONSET OF APKD IN CHILDHOOD[J]. Journal of Tongji University(Medical Science), 1995, 0(1) |
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| Authors: | Zhang Jun Gao Yizhi Lu Xiaoxuan Mao Yiping Wang Shijun Zen Jianxin Dept. of Biology Shanghai Railway Medical College Nanjing Railway Medical College Hospital of Fuqin City Fujian Province |
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| Abstract: | Adult polycystic kidney disease (APKD) is a delayed dominant inherited disease. The mean age of onset of APKD is 40 -year old. Using a probe a - globin 3HVR. the APKD in a family with onset in childhood cauesd by the mutation of APKDl gene was found. It was not enough to cause the onset of APKD earlier for the APKDl mutation itself .because the onset of APKD in the family occured spontaneously in childhood and in adult. The result suggested that the earlier onset of APKD was caused by other genetic factors or enviromental factors , or it was the result of the modification of "genomic imprinting" to the expression of the mutated APKDl gene. |
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| Keywords: | Adult polycystic kidney disease Probe Genomic imprinting |
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