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软骨发育不良一家系的FGFR3基因突变分析 被引量：5

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摘要 目的探讨一个中国汉族软骨发育不良家系的临床表型及FGFR3基因突变类型,确定其致病原因。方法在获得知情同意后对该家系成员进行病史采集和临床检测,并对其中3例患者和3例正常亲属及家系外100例正常对照者采血进行DNA提取,采用聚合酶链反应结合DNA直接测序法对FGFR3基因的第10、13外显子及其部分内含子进行突变检测。结果该家系中3例患者的临床表现为身材矮小、四肢过短、腰椎前突、头颅增大、前额突出。3例患者在FGFR3基因对应cDNA序列发现C1620A(N540K)杂合突变及第13内含子3'剪接位点上游23 bp处发现一G>A杂合突变,3例正常亲属及家系外100例正常对照者均未发现该两种突变。结论FGFR3基因的N540K突变是导致该家系软骨发育不良的关键性分子病因,而内含子IVS13-23突变可能加重了患者的病情。
作者 姜海鸥 黄雪霜 全庆丽 张康
机构地区 四川大学华西临床医学院分子医学研究中心 怀化医学高等专科学校医学遗传学教研室
出处 《广东医学》 CAS CSCD 北大核心 2012年第13期1982-1984,共3页 Guangdong Medical Journal
基金 怀化医学高等专科学校教科研资助项目(编号:2010KY04)
关键词 软骨发育不良 成纤维细胞生长因子受体3 N540K IVS13—23突变
分类号 R548.21 [医药卫生—心血管疾病]
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参考文献12

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共引文献8

同被引文献19

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引证文献5

二级引证文献7

广东医学
2012年 第13期

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