| 两个常染色体显性遗传寻常性鱼鳞病家系致病基因的定位 |
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| 引用本文： | 龚惠勇,张静,胡正茂,邬玲仟,梁德生,谢志国,潘乾,卜枫啸,彭聿,夏昆,夏家辉.两个常染色体显性遗传寻常性鱼鳞病家系致病基因的定位[J].遗传,2008,30(7):843-850. |
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| 作者姓名： | 龚惠勇 张静 胡正茂 邬玲仟 梁德生 谢志国 潘乾 卜枫啸 彭聿 夏昆 夏家辉 |
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| 作者单位： | 1. 中南大学医学遗传学国家重点实验室,长沙,410078
2. 中南大学医学遗传学国家重点实验室,长沙,410078;中南大学生物科学与技术学院,长沙,410078 |
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| 基金项目： | 国家自然科学基金，国家重点基础研究发展计划(973计划) |
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| 摘 要： | 为了对寻常性鱼鳞病的致病基因进行定位, 收集了2个湖南寻常性鱼鳞病家系, 采集外周血, 提取基因组DNA, 采用1号染色体和10号染色体上2个已知寻常性鱼鳞病位点的微卫星标记对这两个家系进行基因分型和连锁分析。结果显示, 寻常性鱼鳞病家系1的致病基因位于D1S498(1q21)附近, 与已知定位区间重叠; 寻常性鱼鳞病家系2的致病基因位点与已知的寻常性鱼鳞病位点不连锁, 可能存在新的致病基因位点。
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| 关 键 词： | 寻常性鱼鳞病 微卫星标记 连锁分析 |
| 收稿时间： | 2008-02-01 |
| 修稿时间： | 2008-02-09 |
Mapping of pathogenic genes in two families with auto-somal dominant ichthyosis vulgaris |
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| GONG Hui-Yong,ZHANG Jing,HU Zheng-Mao,WU Ling-Qian,LIANG De-Sheng,XIE Zhi-Guo,PAN Qian,BU Feng-Xiao,PENG Yu,XIA Kun,XIA Jia-Hui.Mapping of pathogenic genes in two families with auto-somal dominant ichthyosis vulgaris[J].Hereditas,2008,30(7):843-850. |
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| Authors: | GONG Hui-Yong ZHANG Jing HU Zheng-Mao WU Ling-Qian LIANG De-Sheng XIE Zhi-Guo PAN Qian BU Feng-Xiao PENG Yu XIA Kun XIA Jia-Hui |
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| Affiliation: | National Laboratory of Medical Genetics, Central South University, Changsha 410078, China E-mail: gonghuiyong@cnlmg.com. |
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| Abstract: | To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vulgaris families from Hunan Province. Venous blood samples were collected from affected and unaffected family members and genomic DNA was extracted. We then performed genome scan and linkage analysis using microsatellite markers around known ichthyosis vulgaris loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgaris was located near D1S498 (1q21), which overlapped with known ichthyosis vulgaris loci. In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified. |
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