64例Peutz-Jeghers综合征患者STK11基因变异分析  被引量:6

Analysis of STK11 gene variants among 64 patients with Peutz-Jeghers syndrome

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作  者:李蒙 孙涛 蒋宇亮 李静 宁守斌 周平 Li Meng;Sun Tao;Jiang Yuliang;Li Jing;Ning Shoubin;Zhou Ping(Hebei North College,Zhangjiakou,Hebei075000,China;Air Force General Hospital of PLA,Beijing 100142,China;Beijing Shijitan Hospital,Beijing 100142,China)

机构地区:[1]河北北方学院,张家口075000 [2]中国人民解放军空军特色医学中心消化内科,北京100142 [3]北京世纪坛医院消化内科,100038

出  处:《中华医学遗传学杂志》2019年第9期862-865,共4页Chinese Journal of Medical Genetics

摘  要:目的 检测Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)患者丝/苏氨酸激酶11(serine/threonine kinase 11,STK11)基因编码区序列,分析STK11基因变异情况.方法 64例PJS患者来自原中国人民解放军空军总医院消化内科,应用PCR扩增及DNA直接测序方法对STK11基因外显子及侧翼序列进行检测,分析STK11基因变异情况.结果 在64例PJS患者中,48例被检测出STK11基因变异,包括错义变异、无义变异、插入变异、缺失变异、剪切位点变异共39种.变异检出率为75.00%(48/64),其中错义变异占29.17%(14/48),无义变异占29.17%(14/48),插入变异占2.08%(1/48),缺失变异占10.42%(5/48),剪切位点变异占29.17%(12/48).散发患者的变异检出率为71.8%(28/39),家族史患者的变异检出率80.0%(20/25).2种变异(c.250A>T、c.580G>A)分别分布于3例不同PJS家系先证者,考虑为高频变异位点.13种变异未在SNP数据库检出、相关文献未见报道,但患者均表现典型PJS临床特征,疑似为致病性变异位点.结论 中国PJS患者STK11基因变异检出率与国外报道一致,但或许存在中国人高频变异位点,STK11基因新变异的检出丰富了STK11基因变异谱.Objective To screen for pathogenic variants in the coding regions of STK11 gene among Chinese patients with Peutz-Jeghers syndrome(PJS).Methods Peripheral blood samples were collected from 64 patients.The coding regions of the STK11 gene were detected by PCR and Sanger sequencing.Results Fourty-eight patients were found to harbor STK11 gene variants,which included 39 types of variants consisting of missense,nonsense,insertional,deletional and splice site variants.Among 64 PJS patients,the detection rate of point variants was 75.00%(48/64),of which missense variants accounted for 29.17%(14/48),nonsense variants accounted for 29.17%(14/48),insertion variants accounted for 2.08%(1/48),deletional variants accounted for 10.42%(5/48),and splice site variants accounted for 29.17%(14/48).The detection rates of sporadic cases and those with a family history were 71.8%(28/39)and 80.0%(20/25),respectively.Two variants(c.250A>T,c.580G>A)occurred in 3 PJS probands.Thirteen variants were unreported previously and were considered to be pathogenic.Conclusion The detection rate of variants among Chinese PJS patients is similar to that of other countries.A number of novel common variant sites were discovered,which enriched the spectrum of PJS-related variants.

关 键 词:PEUTZ-JEGHERS综合征 STK11基因 基因变异 

分 类 号:R73[医药卫生—肿瘤]

 

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