启动区(遗传学)

摘要： Objective To investigate the association of hepatitis B virus (HBV) precore/core promoter variants with liver pathological changes in patients with HBeAg-positive chronic hepatitis B (CHB).Methods A total of 148 HBeAg-positive CHB patients who were hospitalized in Guangzhou Eighth People's Hospital from April 2012 to December 2013,underwent liver biopsy,and had stored frozen serum samples were enrolled.Serum DAN was extracted and then nested PCR was used for the multiplication and sequencing of the HBV precore/core promoter region.The Mann-Whitney U test was used for comparison of continuous data with heterogeneity of variance between two groups,and the chi-square test was used for comparison of categorical data between two groups;a logistic regression analysis was performed to identify the parameters associated with marked liver fibrosis.Results Of all patients,116 (78.4％) were found to have marked liver fibrosis (≥S2) by liver biopsy.Among the patients with ALT ≤upper limit of normal,10 (58.8％) had marked liver fibrosis;11.8％ had T1753V mutation,35.3％ had A1762T/G1764A mutation,and 5.9％ had G1896A mutation.The univariate logistic regression analysis showed that HBV A1762T/G1764A and G1896A mutations were significantly associated with marked liver fibrosis (P ＜0.05),while age,sex,HBV genotype,and other HBV mutations were not associated with marked liver fibrosis.The multivariate logistic regression analysis showed that HBV A1762T/G1764A mutation (odds ratio [OR] =7.098,P ＜ 0.001) and G1896A mutation (OR =16.816,P =0.007) were independently associated with marked liver fibrosis.Conclusion HBV precore/core promoter variants can be used as the risk factors for marked liver fibrosis in HBeAg-positive CHB patients.%目的 探讨HBV前C/C基因启动子区变异与HBeAg阳性慢性乙型肝炎(CHB)患者肝组织病理变化的关系.方法 将2012年4月-2013年12月在广州市第八人民医院住院诊治,且伴有肝活组织检查与相应冻存血清标本的HBeAg阳性CHB患者148例纳入本研究,提取血清DNA后通过巢式PCR扩增HBV前C/C基因启动子区并测序分析.计量资料方差不齐时2组间比较采用非参数Mann-Whitney U检验,计数资料2组间比较采用x2检验,logistic回归分析与显著肝纤维化相关的参数.结果 共116例(78.4％)患者肝活组织检查提示存在显著肝纤维化(≥S2).ALT≤正常值上限患者组中,10例(58.8％)伴有显著肝纤维化,并发生T1753V(11.8％)、A1762T/G1764A(35.3％)和G1896A变异(5.9％).单因素logistic回归分析显示,HBV基因A1762T/G1764A变异和G1896A变异与显著肝纤维化相关并具有统计学意义(P值均＜0.05),而年龄、性别、基因型和其他变异位点与显著肝纤维不存在相关性.进一步多因素logistic回归分析显示,HBV基因的A1762T/G1764A变异(比值比7.098,P＜0.001)和G1896A变异(比值比16.816,P=0.007)均与显著肝纤维化独立相关.结论 HBV前C/C基因启动子区变异可作为评估HBeAg阳性CHB患者显著肝纤维化发生的危险因素.

摘要： [Objective]To investigate the relationship between KCNJ11 promoter methylation and insulin levels in pa-tients with type 2 diabetes mellitus (T2DM )[.Methods]From April 2014 to April 2015 ,15 patients with T2DM initially treated in our hospital were selected .Those HbA1c > 9% were enrolled in the blood-sugar severely elevated group (group A ,n=5) ,and those HbA1c ≤9% were enrolled in the blood-sugar mildly elevated group (group B ,n =10);15 cases of normal physical examination at the same period were enrolled in the control group (group C);The DNA methyl-ation level of 46 CpG sites in the 5'end 300 bp of the KCNJ11 gene promoter was determined by the sulfite method [.Re-sults] The BMI in the group A was higher than that in the group B and the group C ,and the difference was significant ( P 9%者纳入血糖重度升高组(A组,n=5),HbA1c≤9%者纳入血糖轻度升高组(B组,n=10);选择15例同期健康体检正常者纳入对照组(C组).用亚硫酸盐法测定KCNJ11基因启动子5'端300 bp中的46个CpG位点DNA甲基化水平.[结果]A组BMI高于B组和C组,其差异有显著性(P<00.5).三组间空腹血糖比较均有显著差异(P<00.5);HbA1c在三组间的两两对比中均有显著差异(P<00.5);三组间FIns比较均有明显差异(P<00.5).A组CpG+62、CpG+66、CpG+351、CpG+62+CpG+66甲基化率低于B组和C组,且B组低于C组,均有统计学差异(P<00.5).A组和B组3个甲基化位点甲基化率均与FINS呈负相关.[结论]2型糖尿病患者KCNJ11启动子区甲基化与胰岛素水平呈负相关.

摘要： Objective To explore the distribution characteristics of the rs1491034 and rs982873 single nucleotide polymorphisms (SNPs) in Guangxi populations,and to compare their genotype and allele frequency with different races and populations of other regions.Methods The SNPs of rs1491034 and rs982873 were detected by SNaPshot SNP and DNA sequencing methods.We statistically analyzed the difference between the genotype and allele frequency of the two SNPs that we studied and compared it with the data of different races and regional populations,while were published in the international HapMap project.Results The rs1491034 and rs982873 SNPs contain TT,TC and CC genotypes,respectively,in the Guangxi population.The genotype and allele distribution of the two SNPs were not significantly different between genders in the Guangxi population (P＞0.05).The genotype and allele distribution of the rs1491034 SNP were significantly different from HapMap-CEU and HapMap-YRI populations (P＜0.01),and the genotype and allele distribution of the rs982873 SNP were significantly different from HapMapJPT and HapMap-YRI populations (P＜0.05).However,the genotype and allele distribution of the two SNPs were not significantly different compared with other listed population.Conclusion There are rs1491034 and rs982873 SNPs in the Guangxi population,and there are varying degree of differences in the genotype and allele distribution of the two polymorphism between the Guangxi populations and other published populations of races/regions.%目的 研究rs1491034和rs982873单核苷酸多态性(SNPs)在广西人群中的分布特点,比较二者基因型和等位基因在不同种族、地区人群间的分布差别. 方法 采用SNaPshot SNP分型技术和DNA测序法检测397例广西人群rs1491034和rs982873 SNPs,比较两位点基因型和等位基因频率与国际人类基因组单体型图(HapMap)计划公布的不同种族和地区人群间的差别. 结果 广西人群rs1491034和rs982873均存在TT,CT及CC 3种基因型.2个位点的基因型和等位基因频率在广西人群不同性别间比较,差别均无统计学意义(P＞0.05).广西人群rs1491034基因型和等位基因频率与HapMap-CEU和HapMap-YRI人群比较,差别均有统计学意义(P＜0.01),而rs982873基因型和等位基因频率与HapMap-JPT和HapMap-YRI人群比较,差别均有统计学意义(P＜0.05),但两位点基因型和等位基因频率与其他人群比较,差别均无统计学意义(P＞0.05). 结论 广西人群存在rs1491034和rs982873多态性,与其他种族、地区人群比较存在不同程度的差别.

摘要： 【目的】探讨白细胞介素17(interleukin-17,IL-17)基因启动子区多态性与儿童支气管哮喘易感的相关性。【方法】选择128例小儿支气管哮喘患儿为哮喘组,158例健康儿童为对照组,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测白细胞介素17基因启动子区-152 G/A 多态性,分析其与儿童支气管哮喘易感的相关性。【结果】哮喘组 IL-17基因启动子区-152A 等位基因频率为50.8%,显著高于对照组42%,差异有统计学意义(P =0.038)；哮喘组与对照组之间的 GG、GA 和 AA 等位基因型的分布差异有统计学意义(χ2=7.236,P <0.05),其中 AA 等位基因型在哮喘组中的频率显著高于对照组(29.7% vs 15.2%,P =0.023；OR=2.16,95% CI=1.11~4.2)。【结论】IL-17基因启动子区-152 G/A 多态性和儿童哮喘易感性之间具有相关性。

摘要： 目的 线粒体电压依赖性阴离子通道蛋白2 (Voltage-dependent anion channel 2,VDAC2)是VDAC重要的家族成员,参与机体众多的生理活动和病理疾病的发生发展.本次研究目的 主要是确定和验证人VDA C2基因启动子的活性,为进一步探究它的调控机制奠定基础.方法 通过从正常人射出的精子中提取基因组DNA.利用软件预测启动子区,我们针对性设计三对引物并正确的扩增出来.将验证正确的启动子序列结合到质粒PDSpsiCHECK-2中,转染到小鼠GC-2细胞中去.转染48h后,通过双荧光素酶报告基因系统检测预测片段的启动子活性.结果 VADC2基因上游-2000～+1000bp具有相对较高的活性.结论 这是首次对人类精子中VDA C2基因启动子的确定和活性验证,为后续研究VDAC2基因在精子的发生发展以及弱精子症方面提供新的研究思路.

摘要： 目的 构建负载PCA3启动子联合CD-TK基因的腺病毒载体,并对其进行包装及滴度测定.方法 将PCA3启动子无缝克隆到pHBAd-U6-GFP上,取代原有U6启动子形成pHBAd-PCA3-GFP,AgeI单酶切该重组载体,将CD-TK基因片段无缝克隆至线性化pH-BAd-PCA3-GFP上,抽提质粒抗性筛选后经PCR及测序鉴定为pHBAd-PCA3-CD-TK载体.取上述重组载体质粒及骨架质粒pHBAd-BHG,用LipofiterTM转染试剂进行转染HEK293细胞包装成病毒,大量扩增并测定病毒感染性滴度.结果 经PCR及测序验证证实成功构建负载PCA3启动子及CD-TK自杀基因的重组腺病毒pHBAd-PCA3-CD-TK并包装扩增,病毒滴度为1×1010PFU/mL.结论 构建负载PCA3启动子及CD-TK自杀基因的重组腺病毒,为进一步体内外对前列腺癌细胞的杀伤效应研究奠定了基础.%Objectives To construct and package that adenovirus vector containing PCA3 promoter and CD-TK suicide gene,and to determine the titer.Methods pHBAd-PCA3-GFP was created by replacing U6 with PCA3 promoter.After digest with Age I,CD-TK suicide gene was inserted into pHBAd-PCA3-GFP.The positive clones were identified by PCR and sequencing.pHBAd-PCA3-GFP-CD-TK and pHBAd-BHG were co-transfected into HEK293 cells with Lipofiter TM to package into adenovirus.The titer of the lentivirus was measured cells with the application of Li-pofiter TM to package the adenovirus.The title of the lentivirus was measured.Results PCR and sequencing results showed that pHBAd-PCA3-GFP-CD-TK plasmid was constructed successfully.The titer of the virus was 1 × 1010 PFU/mL.Conclusions The recombinant adenovirus vectors with PCA3 promoter and CD-TK suicide gene is successfully constructed,which can provide foundation further research of killing effect on prostate cancer cells.

摘要： 目的 探讨职业性苯中毒患者骨髓单个核细胞拓扑异构酶(TOPO) Ⅱ α启动子调控因子组蛋白乙酰化修饰的改变.方法 25例职业性苯中毒患者骨髓单个核细胞为苯中毒组,25例正常人骨髓单个核细胞为对照组,染色质免疫沉淀分析法检测TOPO Ⅱ α启动子各调控因子组蛋白乙酰化水平的变化,反转录-聚合酶链反应(RT-PCR)法测定TOPO Ⅱ α启动子各调控因子mRNA表达水平.结果 (1)与对照组比较,苯中毒组TOPO Ⅱ α启动子调控因子特化蛋白1(SP1)、活化转录因子2(ATF-2)、特化蛋白3 (SP3)、核因子Y A(NF-YA)、抑癌基因转录因子P53、原癌基因转录因子c-MYB、CCAAT盒结合蛋白ICBP90、NF-M组蛋白H4、H3乙酰化水平下降,差异有统计学意义(P＜0.05),C-JUN组蛋白H4、H3乙酰化水平无明显改变,差异无统计学意义(P＞0.05);(2)与正常对照组比较,苯中毒组TOPO Ⅱ α启动子调控因子SP1、NF-YA、C-MYB、C-JUN及NF-M mRNA表达水平降低,差异有统计学意义(P＜0.05),ATF-2、ICBP90 mRNA表达水平不变,差异无统计学意义(P＞0.05);SP3、P53 mRNA表达水平则升高,差异有统计学意义(P＜0.05).结论 (1)职业性苯中毒TOPO Ⅱ α启动子调控因子组蛋白化学修饰水平的改变伴随着调控因子mRNA水平的变化;(2)TOPO Ⅱ α启动子调控因子组蛋白乙酰化修饰可能在苯中毒所致的造血毒性中发挥一定的作用.%Objective To investigate histone acetylation modification of topoisomerase enzyme Ⅱ α (TOPO Ⅱ α) promoter regulation factors in patients with chronic benzene poisoning,to explore the possible regulatory mechanism of TOPO Ⅱ o involved in toxicity of chronic benzene poisoning;Methods The bone marrow samples were from 25 chronic benzene poisoning cases and 25 controls.The Chromatin Immunoprecipitation (ChIP) assay was carried out to study the possible mechanism of TOPO Ⅱ α promoter regulation factors expression changes.TOPO Ⅱ α promoter regulation factors mRNA were detected by RT-PCR technique.Results (1)Compared with the control,the histone H4 acetylation,histone H3 acetylation level of TOPO Ⅱ α promoter regulation factors SP1,ATF-2,SP3,NF-YA,P53,C-MYB,ICBP90,NF-M in chronic benzene poisoning patients decreased,with the significant difference (P＜0.05),except for C-JUN (P＞0.05);(2) The mRNA expression of TOPO Ⅱ αpromoter regulation factors SP1,NF-YA,C-MYB,C-JUN and NF-M were significantly lower than in the control with the significant difference (P＜0.05),while the expression of SP3 、P53 mRNA increased(P＜0.05),ATF-2 、ICBP90 mRNA wasn't changed(P＞0.05).Conclusion (1)Chronic benzene poisoning TOPO Ⅱ α promoter regulation factors histone modification changes accompanied with mRNA level changed.(2) Histone acetylation modification of topoisomerase enzyme Ⅱ α promoter regulation factors takes important role in the benezen's Hematopoietic toxicity.

摘要： 【目的】探讨人端粒酶启动子（hT ERT ）联合正常组织特异性miR‐34a （M IR）的整合靶向系统（hT ERT‐M IR）对胶质瘤细胞靶向性的影响。【方法】首先检测hT ERT、miR‐34a在人胶质瘤细胞株 U87、H4和人胶质细胞株HEB（正常细胞株）中的表达；通过质粒构建分别获得 hTERT‐Luc、hTERT‐MIR‐Luc、hTERT‐Bax 以及hTERT‐MIR‐Bax表达质粒，将hTERT‐Luc、hTERT‐MIR‐Luc质粒分别转染U87、H4和 HEB细胞中，检测三组细胞中hT ERT 与hT ERT‐M IR载体的表达活性；将hT ERT‐Bax以及hT ERT‐M IR‐Bax质粒分别转染U87、H4和HEB细胞中，比较三组细胞中hTERT‐Bax和hTERT‐MIR‐Bax对胶质瘤细胞增殖抑制能力的影响。【结果】hTERT在人胶质瘤细胞株U87和H4中特异性高表达，miR‐34a在人胶质细胞株HEB中特异性高表达；在正常胶质细胞株 HEB中，hTERT‐MIR的活性较 hTERT 明显减低（ P ＜0．01）；在胶质瘤细胞株 U87和 H4h中TERT‐Bax和hTERT‐MIR‐Bax 对细胞增殖抑制比较差异无显著性，但在正常胶质细胞株 HEB中，hTERT‐M IR‐Bax对细胞的增殖抑制明显小于hT ERT‐Bax。【结论】hT ERT‐M IR是胶质瘤基因靶向治疗的有效载体系统。%[Objective]To explore a novel vector system based on hTERT promoter and cell‐specific miR‐34a for targeted therapy of glioma .[Methods] The expression levels of hTERT and miR‐34a were detected by quanti‐tative real‐time polymerase chain reaction (qRT‐PCR) in U87 and H4 glioma and normal colloid cells .The vectors of hTERT‐Luc ,hTERT‐MIR‐Luc ,hTERT‐Bax and hTERT‐MIR‐Bax were constructed and transfected into U 87 and H4 glioma and normal colloid cells respectively .The expression activities of hTERT and hTERT‐MIR vectors were detected by luciferase assay in U 87 and H4 glioma and normal colloid cells .And the proliferative capacities of U87 and H4 glioma and normal colloid cells regulated by hTERT‐Bax and hTERT‐MIR‐Bax were evaluated by thi‐azolyl blue tetrazolium blue (MTT) .[Results]The expression of hTERT promoter was stronger in U87 and H4 cells and miR‐34a was highly expressed in normal colloid cells .After incorporating normal cell‐specific miRNA‐targeted sequences ,the activity of hTERT‐MIR system decreased in normal cells ( P <0 .01) .Furthermore ,the proliferative capacity of glioma cells after transfection showed no significant differences .However ,significant differences existed in normal colloid cells .[Conclusion]hTERT‐MIR is an effective vector system of targeted gene therapy for glioma .

摘要： [Objective] PALB2 has been identified as a possible susceptibility gene for breast cancer .And mutation of PALB2 is associated with a high risk of breast cancer .The present study was intended to examine promoter methylation of PALB2 in breast cancer and its relationship with clinicopathological parameters and prognostic value .[Methods] MSP (methylation‐specific PCR) was used to detect the promoter methylation of PLAB2 in paraffin‐embedded breast cancer tissues from 128 cases of breast cancer .Then the relationship be‐tween promoter methylation of PALB2 in breast cancer and clinical prognosis were analyzed .[Results]Among them ,14 .03% of breast cancer patient with lymph node metastasis had promoter methylation of PALB 2 .And it was higher than those without lymph node metastasis (2 .82% ,P =0 .018) .The mean disease‐free survival time and overall survival time of PALB2 promoter methylated patient were 50 and 51 .5 months while those without PALB2 promoter methylation 54 and 88 months respectively .And the differences were statistically significant ( P=0 .003 ,P=0 .003) .N stage and promoter methylation of PALB2 were independent prognos‐tic factors for breast cancer .[Conclusion] The promoter methylation of PALB2 in breast cancer tissue is asso‐ciated with lymph node metastasis .Compared with non‐methylation group ,the patients with promoter methyl‐ation of PALB2 have a lower survival rate .Promoter methylation of PALB2 is an independent prognostic factor in breast cancer patients .%【目的】探讨乳腺癌易感基因PALB2启动子甲基化与乳腺癌临床病理特征、预后的关系。【方法】采用MSP法检测128例乳腺癌石蜡组织中PALB2启动子甲基化情况，分析其与乳腺癌临床病理特征及临床预后的相关性。【结果】128例乳腺癌中有淋巴结转移的患者中14．04％（8／57）检测出PALB2启动子甲基化，高于无淋巴结转移患者的2．82％（2／71），且差异具有显著性（ P ＜0．05）。PALB2启动子甲基化组的中位无瘤生存时间与中位总生存时间分别为50个月和51．5个月，无甲基化组的中位无瘤生存时间与总生存时间分别为54个月和88个月，两者相比较差异均具有显著性（ P ＜0．01）。乳腺癌患者预后相关因素分析提示N分期及PALB2启动子甲基化情况均是影响乳腺癌患者预后的独立危险因素。【结论】乳腺癌组织PALB2基因启动子甲基化情况与是否有淋巴结转移相关。与PALB2启动子无甲基化组比较，有甲基化组乳腺癌患者的预后更差。PALB2启动子甲基化作为影响乳腺癌患者预后的独立危险因素，对于评估患者临床预后有着重要意义。

摘要： 目的：研究慢性肾脏病非透析患者 Klotho 基因启动子区域 G -395A 单核苷酸多态性的分布，探讨该基因多态性位点与慢性肾脏病动脉硬化的相关性。方法：116例慢性肾脏病非透析患者均进行彩超测定颈动脉内膜厚度，并记录动脉硬化的传统危险因素，根据测定结果分为动脉硬化组（56例）和对照组（60例）。应用 TaqMan 探针等位基因特异性杂交分析法对 Klotho 基因 G -395A 多态性位点进行分析。结果：G -395A 多态性位点共检测出 GG、GA、AA 3种基因型，频率分别为56．9%、32．8%和10．3%，符合 Hardy - Weinberg 平衡。动脉硬化组 G -395A 等位基因的频率显著低于对照组（35．1% vs 49．0%，P ＝0．032）。logistic 回归分析，调整传统危险因素后 G -395A 与动脉硬化呈负相关（β＝-0.412，P ＝0．024）。结论：Klotho 基因 G -395A 等位基因可能是慢性肾脏病动脉硬化的遗传学保护因素。%Objective:To investigate the distribution of G - 395A polymorphism in promoter of Klotho gene in Chronic Kid-ney Disease Patients and analyze its association with arteriosclerosis. Methods:Genotyping of G - 395A polymorphism was performed in 56 arteriosclerotic patients of CKD and 60 controls using an allelic discrimination assay with TaqMan probes. Carotid artery intima- media thickness and atherosclerotic plaques were measured as a marker of atherosclerotic vascular damage. Results:Genotype fre-quencies of GG,GA and AA were 56. 9% . 32. 8% and10. 3% respectively. The distribution was in accordance with Hardy - Weinberg equilibrium. The frequency of the A allele carriers was signif - icantly lower in the arteriosclerosis group than in the control group (35. 1% vs 49. 0% ,P ﹤ 0. 05). Logistic regression analysis revealed that after adjusted for traditional risk factors,the Aallele was negatively correlated with arteriosclerosis(β = - 0. 412,P ﹤ 0. 05). Conclusion:The A allele of G - 395A polymorphism of Klotho gene may be a protective factor against arteriosclerosis in CKD patients.

摘要： 本发明涉及一种光遗传学调控的动物行为学测试平台，用于对测试动物进行行为学测试，该测试平台包括中央控制系统、环境控制系统、行为学监测系统、光电检测调控系统及用于固定上述系统的壳体装置。通过将光遗传学神经调控技术和电生理、行为学测试等结合起来，建立了一套标准化和集成化的用于测试动物光遗传学调控的行为学测试平台，通过该平台可以实现在一定的环境内对测试动物进行光遗传学调控和行为学记录，有助于理解动物光遗传学调控和行为学之间的关系，满足对神经系统和精神疾病的发病机制和治疗机制研究的需求。

摘要： 本发明涉及到一种利用TRPV1启动子及光遗传学手段在特异性地抑制体内疼痛神经元兴奋进而抑制疼痛生成与传递的方法，是一种新的非侵入性、特异性缓解疼痛的方法。用TRPV1启动子驱动光抑制性敏感蛋白ArchT特异性的表达在动物DRG的中小型神经元即伤害性感受器中，当给予532nm的绿色激光刺激时，ArchT蛋白会将神经细胞中的H+泵到细胞外使细胞超极化而被抑制，从而达到抑制疼痛的效果。这是一种全新的、非侵入性的、特异性的抑制疼痛的方法。该研究势必会为以后镇痛的基因治疗奠定良好的理论与实践基础。

摘要： 本发明提供了不含朊病毒蛋白(PrP)的永生化人类体细胞系，其中，所述PrP基因的两个等位基因已被完全剔除。本发明还提供了用于生产所述细胞系的方法以及将其用于生产适合作为生物药品的人重组蛋白的用途。

摘要： 本公开内容描述了一种患者注册数据系统，其可用于汇总涉及疾病发生、进展和对治疗的反应的临床、分子和免疫参数。本公开内容可允许参与者、研究者和医师基于诸如参与者人口统计数据和免疫系统数据等参数来使数据可视化。

摘要： 本公开内容描述了一种患者注册数据系统，其可用于汇总涉及疾病发生、进展和对治疗的反应的临床、分子和免疫参数。本公开内容可允许参与者、研究者和医师基于诸如参与者人口统计数据和免疫系统数据等参数来使数据可视化。

摘要： 本发明涉及一种光遗传学调控的动物行为学测试平台，用于对测试动物进行行为学测试，该测试平台包括中央控制系统、环境控制系统、行为学监测系统、光电检测调控系统及用于固定上述系统的壳体装置。通过将光遗传学神经调控技术和电生理、行为学测试等结合起来，建立了一套标准化和集成化的用于测试动物光遗传学调控的行为学测试平台，通过该平台可以实现在一定的环境内对测试动物进行光遗传学调控和行为学记录，有助于理解动物光遗传学调控和行为学之间的关系，满足对神经系统和精神疾病的发病机制和治疗机制研究的需求。

摘要： 本发明提供一种利用线粒体DNA控制区进行黄鲫遗传学分析的方法，属于基因工程技术领域，包括如下步骤：在黄鲫肌肉组织样本中加入裂解液进行裂解，然后分离上清液，获得线粒体基因组DNA；将线粒体基因组DNA进行靶序列的筛查；从筛查结果进行黄鲫遗传学分析；其中，裂解液为包含NaOH、Tris‑HCl、EDTA、甘氨胆酸钠和二巯基丙醇的水溶液；靶序列包括线粒体DNA控制区中的整体或部分。本发明能够能够简便快速地获得高质量、高纯度、可作为扩增模板的线粒体基因组DNA，且得率高，然后利用黄鲫线粒体DNA控制区对黄鲫遗传信息和遗传多样性进行分析，方法快速准确且简单实用。

摘要： 本发明引导式多模态影像遗传学数据特征分析方法，同时考虑样本的多模态影像数据分析以及基因影像典型相关分析。采用权重分解方法将权重分为模态一致性权重和模态特异性权重，模态一致性权重表示模态之间共有的信息，模态特异性权重表示单个模态独有的信息。此外采用样本的标签这一先验信息，利用回归分析引导多模态影像数据的特征学习，同时利用机器学习中多任务学习框架将多模态数据与基因数据的典型相关分析作为多个学习任务，利用多任务学习所包含的有用信息帮助每个任务得到更准确的学习器并且找到任务之间的差别和联系。本发明公开的方法能够有效地进行特征选择和影像遗传学数据相关性分析。

摘要： 本发明提出了一种检测苯并[a]芘暴露的表观遗传学标志物，所述表观遗传学标志物包括人第6号染色体中cg02446434位点、cg08681110位点和cg18338863位点中的至少一个。本发明还提供了一种上述检测苯并[a]芘暴露的表观遗传学标志物的筛选方法和应用。本发明cg02446434位点、cg08681110位点和cg18338863位点的甲基化改变发生在疾病的早期，可实现一级预防的目的，且cg02446434位点、cg08681110位点和cg18338863位点均位于基因MARCKS上，可用于肺部疾病的发病机制研究，应用前景好；DNA甲基化分析灵敏度高、稳定性好、成本低。

摘要： 本发明涉及生物发酵领域，尤其涉及一种经表观遗传学改造提高内生真菌发酵产物4‑羟基苯乙醇产量的方法，本发明与普通内生真菌发酵产物相比，4‑羟基苯乙醇产率得到了很大提升，产率高达122mg/L，操作简单，能够进行工业化大规模生产，本发明使用丙酮酸钠为表观遗传修饰剂，原料易得，经济成本低，本发明分离提纯过程操作简单，可以有效的降低生产成本。