| 中国着色性干皮病的发病概况及遗传学分析 |
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| 引用本文： | 霍正浩 墙克信. 中国着色性干皮病的发病概况及遗传学分析[J]. 中华医学遗传学杂志, 1995, 12(3): 138-141 |
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| 作者姓名： | 霍正浩 墙克信 |
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| 作者单位： | 宁复医学院生物学教研室，军事医学科学院放射医学研究所 |
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| 摘 要： | 对６个着色性干皮病家系中１３例患者进行了临床遗传学研究。结合复习国内有ＸＰ病的文献资料，共计对国内１１８个ＸＰ家系中２０３例患者的临床遗传学资料进行了分析，分别对我国ＸＰ的发病概况，临床遗传学特征及分型，ＤＮＡ修复能力及互补群分析等进行了讨论，提出我国ＸＰ基因频率和发病率。
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| 关 键 词： | 干皮病 着色性干皮病 遗传学 基因频率 |
PREVALENCE AND CLINICOGENETICS OF XERODERMA PIGMENTOSUM IN CHINA |
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| Huo Zhenghao,Qiang Kexin,Xu Fang,et al.. PREVALENCE AND CLINICOGENETICS OF XERODERMA PIGMENTOSUM IN CHINA[J]. Chinese journal of medical genetics, 1995, 12(3): 138-141 |
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| Authors: | Huo Zhenghao Qiang Kexin Xu Fang et al. |
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| Abstract: | The authors studied the clinicogenetic characters of 13 patients from 6 families with xeroderma pigmentosum(XP)and made a literature review covering 203 cases from 118 families with XP in China from 1955-1993.The incidence of XP,its clinicogenetic character,typing,DNA repair capacity and complementation group were analysed.The XP gene frequency was calculated at 0.002 for the population in China and incidence at O.000004(1:250000). |
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| Keywords: | Xeroderma pigmentosum Clinicogenetics Complementation group Gene frequency |
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