Identification of a Novel VEGFR-3 Missense Mutation in a Chinese Family with Hereditary Lymphedema Type I  

一个I型遗传性淋巴水肿中国家系的VEGFR3基因的新突变方式(英文)

作　　者：郁正亚[1] 王津津[2] 彭淑玲[2] 董冰[2] 李杨[2] 

机构地区：[1]首都医科大学附属北京同仁医院普通外科及血管外科,北京100730 [2]首都医科大学附属北京同仁医院眼科中心,北京市眼科研究所,北京100730

出　　处：《Journal of Genetics and Genomics》2007年第10期861-867,共7页遗传学报（英文版）

摘　　要：A novel mutation of vascular endothelial growth factor receptor gene （VEGFR-3）, was identified in a four-generation Chinese family with hereditary lymphedema type I （HL-I）. Genetic linkage analysis was performed on the known genetic locus for HL-I with a panel of polymorphic markers, and then mutations were screened out by direct sequencing. By genotyping, the family showed the linkage to HL-I locus on 5q35.3. Mutation screening analysis of the exons encoding the intracellular kinase domains of VEGFR-3, revealed a novel missense mutation D1055V. This mutation cosegregated with the disease phenotype in the family and was not found in 100 normal controls. This finding has expanded the spectrum of the VEGFR-3 gene mutations causing HL-I, and will be useful for further genetic consultation and genetic diagnosis.通过对国人Ⅰ型遗传性淋巴水肿一家系分子遗传学检测,报告VEGFR-3基因新突变。首先在Ⅰ型遗传性淋巴水肿对该家系进行致病基因的连锁分析,然后用DNA直接测序方法进行基因突变分析。连锁分析和单倍体分析确定该家系致病基因位于5q35.3,与Ⅰ型遗传性淋巴水肿连锁。VEGFR-3基因突变分析发现了一个新的错义突变D1055V,该错义突变在家系中共分离,且在100个正常对照组中未发现该序列改变。本研究首次报告了国内Ⅰ型遗传性淋巴水肿VEGFR-3基因新的错义突变D1055V,丰富了VEGFR-3基因基因突变谱,为今后开展遗传性淋巴水肿的基因诊断和遗传咨询奠定基础。

关 键 词：hereditary lymphedema vascular endothelial growth factor receptor gene （VEGFR-3） missense mutation autosomaldominant 

分 类 号：R551[医药卫生—血液循环系统疾病]