[一个颌骨肥大症家族中SH3BP2基因的突变检测]
[Mutation detection in SH3BP2 gene in a cherubism family].
作者信息
Li Cui-ying, Yu Shi-feng
机构信息
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
出版信息
Zhonghua Kou Qiang Yi Xue Za Zhi. 2006 Jun;41(6):368-71.
OBJECTIVE
To detect SH3BP2 gene mutation in a cherubism family.
METHODS
Peripheral blood samples were obtained from the family of cherubism. Genomic 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.
目的
检测一个颌骨增大症家系中的SH3BP2基因突变。
方法
采集颌骨增大症家系成员的外周血样本。提取基因组DNA。进行聚合酶链反应和直接测序以鉴定突变。
结果
在该家系中检测到SH3BP2基因第9外显子发生一个转换，导致错义突变（Arg 415 Pro）。
结论
SH3BP2基因中的错义突变是这个中国颌骨增大症家系表型的病因。
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