Single Nucleotide Polymorphism Analysis for LRRK2 rs34778348:G>A of Parkinson′s Disease

基因的单核苷酸多态性(SInglE nuClEOTIdE POlyMOrPHISM,SnP)是导致帕金森病(PArkInSOn′S dISEASE)发生的遗传因素之一,但受不同种族和地域的影响.通过联合使用引物重叠PCr定点突变,限制性长度多态性分析(rESTrICTIOn frAgMEnT lEngTH POlyMOrPHISM,rflP)筛查了帕金森病的重要致病基因lEuCInE-rICH rEPEAT kInASE 2(lrrk2)的突变体:rS34778348:g>A(g2385r);用毛细管电泳(CAPIllAry ElECTrOPHOrESIS,CE)技术进行验证.在237个散发性帕金森病人和190个对照者中虽然未发现rS34778348:g>A的纯合子突变,但存在rS34778348:g>A的杂合子突变,并且统计分析显示病例组与对照组rS34778348:g>A的等位基因频率(P=0.010)和基因型频率(P=0.001)差异显著.显示筛查到rS34778348:g>A可能是中国散发帕金森病易感性的风险因子.该方法有助于促进帕金森病分子诊断的临床普及.Parkinson′s disease(PD)is a degenerative disorder of central nerve system(CNS),genetically attributed by known mutations of leucine-rich repeat kinase(LRRK2),alpha-synuclein(SNAC),PTEN-induced putative kinase 1(PINK1)etc.Single nucleotide polymorphism(SNP),rs34778348:G>A(G2385R)in LRRK2 is the most common known cause of about 5%familiar and 3%sporadic PD in Europe.In this study,site-specific mutation primer overlapping PCR,restriction fragment length polymorphism(RFLP)and capillary electrophoresis(CE)were applied to systematically analyze the risk factor,rs34778348:G>A,from 237sporadic PD patients and 190normal Chinese.24heterozygous SNP carriers out of 237(10.1%)PD patients and 4heterozygous SNP carriers out of 190(2.1%)controls were significantly detected with pvalue of 0.001and 0.010of genotype and allele frequency,respectively.It implies that rs34778348:G>A in LRRK2is a potential risk factor of PD in Chinese population.Furthermore,we established the positive control of rs34778348:G>A and mutation diagnostic standard operation procedures(SOPs)to promote the commercialization of molecular diagnosis in PD.福建省科技计划项目(2012D062

JUNO Sensitivity on Proton Decay p→νˉK+p\to \bar\nu K^+ Searches

The Jiangmen Underground Neutrino Observatory (JUNO) is a large liquid scintillator detector designed to explore many topics in fundamental physics. In this paper, the potential on searching for proton decay in $p\to \bar\nu K^+$ mode with JUNO is investigated.The kaon and its decay particles feature a clear three-fold coincidence signature that results in a high efficiency for identification. Moreover, the excellent energy resolution of JUNO permits to suppress the sizable background caused by other delayed signals. Based on these advantages, the detection efficiency for the proton decay via $p\to \bar\nu K^+$ is 36.9% with a background level of 0.2 events after 10 years of data taking. The estimated sensitivity based on 200 kton-years exposure is $9.6 \times 10^{33}$ years, competitive with the current best limits on the proton lifetime in this channel

JUNO sensitivity on proton decay p → ν K + searches*

The Jiangmen Underground Neutrino Observatory (JUNO) is a large liquid scintillator detector designed to explore many topics in fundamental physics. In this study, the potential of searching for proton decay in the $p\to \bar{\nu} K^+$ mode with JUNO is investigated. The kaon and its decay particles feature a clear three-fold coincidence signature that results in a high efficiency for identification. Moreover, the excellent energy resolution of JUNO permits suppression of the sizable background caused by other delayed signals. Based on these advantages, the detection efficiency for the proton decay via $p\to \bar{\nu} K^+$ is 36.9% ± 4.9% with a background level of $0.2\pm 0.05({\rm syst})\pm$$0.2({\rm stat})$ events after 10 years of data collection. The estimated sensitivity based on 200 kton-years of exposure is $9.6 \times 10^{33}$ years, which is competitive with the current best limits on the proton lifetime in this channel and complements the use of different detection technologies