Results We found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has...
Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms Technical Data AA Change p.D194Y CDS Change c.580G>T...
[5] Zhao N, Wilkerson MD, Shah U, et al. Alterations of LKB1 and KRAS and risk of brain metastasis: comprehensive characterization by mutation analysis, copy number, and gene expression in non-small-cell lung carcinoma[J]. Lung C...
Conclusion A new STK11 gene mutation, G2039C, is found in a Chinese PJS pedigree, which may be involved in the genetic basis of PJS. Key words: 【Keywords】 Peutz-Jeghers syndrome(PJS), STK11 gene, Mutation 引用本文 康晓静 田艳 高峰 张德志 吴秀娟 普雄明. Peutz-Jeghers综合征STK11基因...
which could be an indicator for the diagnosis of PJS in this fa m ily.And it may lead to a higher risk of cancer in patients. Keywords:Peutz—Jeghcrs syndrome;STK1 1 gene;tr uncated mutation 黑斑息肉综合征(Peutz—Jeghers syndrome,PJs),又 称黑斑 胃肠道多发性息 肉病 ,是一种临床上少见...
Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. Methods Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and ...
Moreover, nucleotide sequencing analysis of the whole coding region (exons 1 to 9) of STK11 gene was performed in 5 samples. A single nucleotide mutation, consisting of C to T transition at position 17587 in the intronic region 2 was detected in one case from Uganda out of 5 (20%) tot...
STK11 Gene Mutation in Chinese with PJS LI Yixiong , LU Xinsheng, XIA Jiahui, et al.*Affiliated Xiangya Hospital, National Laboratory of Medical Genetics, Hunan Medical University. Changsha 410078,China 【Abstract】 Objectives To understand the mutation characteristic of STK11 gene in Chinese with ...
博士学位论文 STKll/LKBl gene mutation screening and proteomlC analysis Ol 』●l-nChinese PJS patients Ph.D.Candidate:Zhiqing Wang Tutors:Prof.Bo Jiang ABSTRACT Background Peutz.Jeghers Syndrome(PJS,MIM#1 75200)is arare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps...
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