中国医学科学院学报

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中国医学科学院学报

中国医学科学院学报 ›› 2007, Vol. 29 ›› Issue (3): 302-306.

• 论著 • 上一篇    下一篇

一常染色体显性遗传寻常型鱼鳞病家系致病基因的定位

胡正茂1,谢志国1,邬玲仟1,梁德生1,朱海燕2, 潘 乾1,龙志高1,戴和平1,夏家辉1,夏 昆1
  

  1. 1中南大学 湘雅医院医学遗传学国家重点实验室,长沙 410078
    2南京市鼓楼医院妇产科,南京 210008
  • 收稿日期:2007-01-29 修回日期:1900-01-01 出版日期:2007-06-30 发布日期:2007-06-30
  • 通讯作者: 夏昆

Mapping of Pathogenic Genes in a Pedigree with Autosomal
Dominant Ichthyosis Vulgaris

HU Zheng-mao1, XIE Zhi-guo1, WU Ling-qian1, LIANG De-sheng1, ZHU Hai-yan2, PAN Qian1, LONG Zhi-gao1, DAI He-ping1, XIA Jia-hui1, XIA Kun1   

  1. 1National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China

    2 Department of Gynecology and Obstetrics, Nanjing Drum Tower Hospital, Nanjing 210008, China

  • Received:2007-01-29 Revised:1900-01-01 Online:2007-06-30 Published:2007-06-30
  • Contact: XIA Kun

摘要: 摘要:目的 研究一常染色体显性遗传寻常型鱼鳞病家系的致病基因。 方法 采用基因组扫描方法,利用1号染色体上的微卫星标记对该家系进行连锁分析,然后对候选基因FLG的部分编码区及外显子与内含子交界处进行突变检测。 结果 在D1S2696得到最大两点连锁LOD值3.46(θ=0),单体型分析将疾病基因定位在D1S2726-D1S305之间约15cM范围内;在FLG基因的外显子非重复序列及部分重复序列未发现与疾病相关的突变。结论 该寻常型鱼鳞病家系的致病基因位于D1S2696附近,其致病基因可能是除FLG以外的其他基因。

关键词: 寻常型鱼鳞病, 微卫星标记, 连锁分析, 突变分析

Abstract: ABSTRACT:Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV). Methods Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation. Results A maximum two-point Lod score of 3.46 (θ=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients. Conclusion The pathologic gene of the IV family locates near D1S2696,and the FLG gene may not ruled out from the pathologic genes.

Key words: icdtdyosis vulcaris, micro-satellite markers, linkace analysis, mutation detection