Zhao Xiaoyan, Huang Yijin, Yang Bingchun, Zhao Yan
Department of Dermatology, Central Laboratory, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, P. R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):294-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.008.
To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS).
A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STK11 gene. PCR products were directly sequenced to detect mutation.
A missense mutation p.F354L (c.1062C>G) in exon 8 of the STK11 gene has been identified in all patients with PJS, but was not found in normal individuals from the pedigree and 100 unrelated controls.
A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.
研究黑斑息肉综合征（PJS）一家系中的丝氨酸/苏氨酸蛋白激酶11（STK11）基因突变情况。
对一个PJS家系进行调查。从该家系中患病和未患病成员以及100名无亲缘关系的健康对照者的外周血样本中提取DNA。采用聚合酶链反应（PCR）扩增STK11基因的全部9个编码外显子。对PCR产物进行直接测序以检测突变。
在所有PJS患者中均鉴定出STK11基因第8外显子的错义突变p.F354L（c.1062C>G），但在该家系的正常个体及100名无亲缘关系的对照者中未发现此突变。
STK11基因的错义突变p.F354L可能是该家系疾病的发病基础。
