一个巨颌症家系SH3BP2基因的突变检测  

Mutation detection in SH3BP2 gene in a cherubism family

作　　者：李翠英[1] 于世凤[1] 

机构地区：[1]北京大学口腔医学院.口腔医院口腔病理研究室,100081

出　　处：《中华口腔医学杂志》2006年第6期368-371,共4页Chinese Journal of Stomatology

基　　金：国家自然科学基金资助项目(30271412);高等学校博士学科点专项科研基金资助项目(20020001096)

摘　　要：目的了解国内巨颌症致病基因的突变情况。方法对一个家系的10位成员进行外周血基因组DNA的提取;用聚合酶链反应结合DNA直接测序的方法进行SH3BP2突变检测。结果该家系中的6位直系成员均存在SH3BP2基因第9外显子的单碱基错义突变,为G1505C,导致编码第415位氨基酸的密码子由CGA替换为CCA,其编码的氨基酸由精氨酸(Arg)变为脯氨酸(Pro)。结论SH3BP2基因的单碱基突变是引起这个巨颌症家系的致病突变。该突变与国外一学者发现的突变完全相同。Objective To detect SH3BP2 gene mutation in a cherubism family. Methods Peripheral blood samples were obtained from the family of cherubism. Geomic DNA was extracted. Polymerase chain reaction and direct sequencing were performed to identify the mutation Results A transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation（Arg 415 Pro）. Conclusions Missense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.

关 键 词：颌骨增大症 DNA突变分析 遗传性疾病 

分 类 号：R782.2[医药卫生—口腔医学]