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学科主题临床医学
Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome
Kang, LC; Zhao, XR; Zhou, YS; Jia, YX; Kang, SH; Chen, Z; Zhao, M; Cui, JT; Li, WM; Sun, AL; Lu, YY
关键词Peutz-Jeghers syndrome STK11 gene gene mutation DHPLC
刊名CHINESE SCIENCE BULLETIN
2003-02-01
48期:4页:333-337
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]GERMLINE MUTATIONS ; CHROMOSOME 19P13.3 ; SOMATIC MUTATIONS ; COLON-CANCER ; LINKAGE ; KINASE ; RISK ; LKB1
英文摘要

Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by multiple gastrointestinal hamartomatous polyps and melanin spots on lips and buccal mucosa, with an increased risk for various cancers. The PJS gene, a potential tumour suppressor gene, encoding a serine/threonie kinase (STK11), was mapped to chromosome 19p13.3. To investigate the mutations of STK11 gene in Chinese with PJS, we analyzed its coding sequence in fifteen patients and twenty unaffected members of six families, including three multigenerational families with PJS and three sporadic families with PJS, by PCR, PCR-DHPLC and DNA sequencing techniques. Ten point mutations were found in the six families, including five missense mutations, one acceptor-splice site mutation, a nonsense mutation and three silent mutations. Our data showed that five missense mutations occurrd at codon 123 (CAG to CAT) in exon 2, codon 161 (ATT to AGT) in exon 4, codon 194 (GAC to GAG) in exon 4, codon 245 (CTC to TTC) in exon 5 and codon 354 JTC to TTG) in exon 8. One kind of nonsense mutation was detected at codon 37 (CAG to TAG) in exon 1. Furthermore, we found an intronic mutation at a splice-acceptor site: a one base substitution from AG to AA in intron 4. These mutations were not detected in 20 normal DNA samples. In three sporadic families, only in one patient, we detected a missense mutation in exon 5. In addition, we found three silent mutations, which may cause polymorphisms of STK11 gene in introns 1(+36), 3(-51) and 5(+27). These results indicated that the point mutation in STK11 might be involved in PJS pathogenesis. Mutation frequency is higher in the families suffering PJS in three or more generations than that of the sporadic cases.

语种英语
WOS记录号WOS:000181441800006
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62925
专题北京大学临床肿瘤学院
作者单位1.264 Hosp Peoples Liberat Army, Taiyuan 030001, Peoples R China
2.Peking Univ, Beijing Inst Canc Res, Sch Oncol, Beijing 100034, Peoples R China
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GB/T 7714
Kang, LC,Zhao, XR,Zhou, YS,et al. Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome[J]. CHINESE SCIENCE BULLETIN,2003,48(4):333-337.
APA Kang, LC.,Zhao, XR.,Zhou, YS.,Jia, YX.,Kang, SH.,...&Lu, YY.(2003).Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome.CHINESE SCIENCE BULLETIN,48(4),333-337.
MLA Kang, LC,et al."Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome".CHINESE SCIENCE BULLETIN 48.4(2003):333-337.
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