Objective: Due to genetic factors might increase the risk of depression, this study investigated the genetic risk factors of depression in Chinese Han population by analyzing the association between 13 candidate genes and depression. Methods: 439 depression patients and 464 healthy controls were included in this case-control study. Case group consisted of 158 males and 281 females, aged (29.84±14.91) years old, who were hospitalized in three departments of the affiliated Brain Hospital of Guangzhou Medical University including Affective Disorders Department, Adult Psychiatry Department and Geriatrics Department, from February 2020 to September 2021. The control group consisted of 196 males and 268 females, aged (30.65±12.63) years old. 20 loci of 13 candidate genes in all subjects were detected by MALDI-TOF mass spectrometry. Age difference was compared using the student's t-test, the distributions of gender and genotype were analyzed with Pearson's Chi-square test. The analyses of Hardy-Weinberg equilibrium, allele frequency and the genetic association of depression were conducted using the corresponding programs in PLINK software. Results: PLINK analysis showed that SCN2A rs17183814, ABCB1 rs1045642, CYP2C19*3 rs4986893 and NAT2*5A rs1799929 were associated with depression before Bonferroni correction (χ2=10.340, P=0.001; χ2=11.010, P=0.001; χ2=9.781, P=0.002; χ2=4.481, P=0.034). The frequencies of minor alleles of above loci in the control group were 12.07%, 43.64%, 2.59% and 3.88%, respectively. The frequencies of minor alleles of loci mentioned above in the case group were 17.43%, 35.99%, 5.47% and 6.04%, respectively. OR values were 1.538, 0.726, 2.178 and 1.592, respectively. After 1 000 000 permutation tests using Max(T) permutation procedure, the four loci were still statistically significant, the empirical P-value were 0.002, 0.001, 0.003 and 0.042, respectively. However, only three loci including SCN2A rs17183814, ABCB1 rs1045642 and CYP2C19 rs4986893 had statistical significance after Bonferroni correction, the adjusted P-value were 0.026, 0.018 and 0.035, respectively. Conclusion: SCN2A rs17183814, ABCB1 rs1045642 and CYP2C19*3 rs4986893 were associated with depression's susceptibility in Chinese Han population. The A allele of SCN2A rs17183814 and CYP2C19*3 rs4986893 were risk factors for depression, while the T allele of ABCB1 rs1045642 was a protective factor for depression.

目的 探讨精神分裂症患者CYP2C19、CYP2D6基因多态性对氯氮平(CZ)代谢的影响.方法 采用实时荧光定量PCR检测224例精神分裂症患者的CYP2C19与CYP2D6基因型,根据CYP2C19的代谢类型,将患者分为快代谢型、中间代谢型和慢代谢型,根据CYP2D6的代谢类型,将患者分为快代谢、中间代谢型和中低代谢型.高效液相色谱技术检测各组患者氯氮平及其代谢产物去甲氯氮平(NCZ)的血药浓度.分别计算各组基因型分布和等位基因频率、CZ、NCZ、CZ+NCZ总血药浓度以及NCZ/CZ比值.结果 224例精神分裂症患者CYP2C19等位基因?1、?2和?3的基因频率分别为62.3％、33.9％和3.8％.CYP2D6等位基因?1、?2、?4、?10和?41的基因频率分别为22.3％、11.8％、0.7％、61.2％和4.0％.CYP2C19快代谢型NCZ/CZ比值为0.41±0.31,CYP2C19中间代谢型NCZ/CZ比值为0.39±0.19,CYP2C19慢代谢型的NCZ/CZ为0.30±0.12,CYP2C19快代谢型、CYP2C19中间代谢型NCZ/CZ比值高于CYP2C19慢代谢型,差异有统计学意义(F=9.11,P<0.05).结论 CYP2C19可影响CZ的代谢,且CYP2C19慢代谢型显著降低CZ代谢率.CYP2D6对CZ代谢影响不显著.

肺癌是全球发病率与死亡率均位于第一位的恶性肿瘤.肺腺癌(lung adenocarcinoma,LUAD)大约占整个肺癌的40％.但是,目前对肺腺癌发生发展的机制尚未阐明.TCGA在线数据库GEPIA证实,免疫球蛋白超级家族成员9(immunoglobulin superfamily member 9,IGSF9)在肺腺癌中的平均表达量是6.56,其在正常癌旁组织中的平均表达量是0.55,提示IGSF9在肺腺癌中的表达量是正常癌旁组织的11.93倍.人类蛋白组学数据库也提示,IGSF9在肺腺癌中高表达.通过qRT-PCR检测IGSF9在肺腺癌细胞中的表达量,发现其在A549和H1299细胞中的表达量分别是其在BEAS-2B细胞中的4.17倍和6.6倍.细胞功能实验发现,过表达IGSF9,其LUAD细胞的增殖能力显著增加.平板克隆形成实验发现,在A549细胞中,对照组平板克隆大约有240个,过表达IGSF9后,该组细胞的平板克隆数大约是385个,实验组的克隆数目是对照组的1.60倍(P＜0.01).敲低IGSF9,则LUAD细胞增殖能力明显降低.平板克隆形成实验发现,在H1299细胞中,对照组平板克隆大约有320个,敲低IGSF9后,该组细胞的平板克隆数大约是164个,实验组的克隆数目仅为对照组的51.25％ (P＜0.01).生物信息学预测结合后期研究证实,IGSF9可显著抑制叉头蛋白K2(forkhead box protein K2,FOXK2)的表达.MTS实验发现,过表达FOXK2可显著逆转IGSF9对LUAD细胞增殖的促进作用,而敲低FOXK2则可明显补偿敲低IGSF9对LUAD细胞的增殖抑制作用.这些结果提示,IGSF9通过下调FOXK2从而促进LUAD细胞的增殖.

目的:探讨血清人附睾上皮分泌蛋白4 (HE4)与不同分期慢性肾脏病(CKD)之间的关系.方法:选择2017年4月至2019年4月在广州市惠爱医院就诊的CKD患者共90名为研究对象,另外征集健康志愿者90名为对照组.按肾小球滤过率将CKD患者分为5个阶段,比较每个阶段HE4水平之间是否有显著差异.并比较不同指标之间受试者工作曲线(ROC)下面积(AUC),以明确HE4在CKD中的诊断价值.结果:不同分期HE4水平比较,显示其发生了显著上升.通过对AUC的计算,HE4的AUC数值最大,差异具有统计学意义(P＜0.05),说明HE4对CKD具有较好的诊断效能.结论:HE4能有效提示CKD,有助于CKD的早期诊断.

Objective To investigate the effect of CYP2D6 gene polymorphism on risperidone (RISP) metabolism in schizophrenic patients. Methods CYP2D6 allele polymorphisms including*10,*4,*41 and *2 was detected by real-time fluorescent PCR in 120 schizophrenic patients who have taken risperidone continually. Alleles without SNP mutations were classified as wild-type (WT). At the same time, serum risperidone and 9-hydroxyrisperidone concentration of all patients were detected by mass spectrometric analysis. Some samples were selected for DNA sequencing of CYP2D6*10, which is the most common CYP2D6 allele in Oriental population. The 120 patients were divided into three groups according to their allele variants. Group 1 was defined as carriers of two functional alleles, group 2 was defined as carriers of one defective allele, group 3 was defined as carriers of two defective alleles. Genotype distributions, alleles frequencies, RISP, 9-oh-RISP, RISP+9-OH-RISP, 9-oh-RISP/RISP among three groups were calculated.Results Group 1 amount to 23 cases including 13 cases of WT/WT, 7 cases of*2/*2, 3 cases of WT/*2. Group 2 amount to 51 cases, including 38 cases of WT/*10, 8 cases of *2/*10, 1 case of *2/*41, 4 cases of WT/*41. Group 3 amount to 46 cases, including 44 cases of *10/*10, 2 cases of *10/*41. The*4 allele was not detected. The allele frequency of WT, *2, *10 and *41 was 29.6％, 10.8％, 56.7％ and 2.9％, respectively. The 9-hydroxyrisperidone/risperidone-ratio of three groups were 15.24±5.77, 11.06±4.56 and 2.39 ± 1.06, respectively. There was a significant difference in 9-hydroxyrisperidone/risperidone-ratio between Group 3 and the first two groups (P<0.001). Conclusions The frequency of *10 allele was the highest among the subjects. The frequency of WT and*2 allele was over 95％in the population. Individuals carrying one defective allele of CYP2D6 will decrease the rate of risperidone metabolism slightly, while individuals carrying two defective alleles of CYP2D6 may decrease the rate of risperidone metabolism significantly.

目的 调查分析该院重症监护病房(IC U)患者医院获得性深部真菌感染的菌种、感染部位及药敏结果,并分析深部真菌感染的危险因素.方法 回顾调查2014年1月至2018年12月798例IC U住院患者送检的各类标本的真菌培养情况.结果 共检出真菌509株,以尿路感染为主,占86.25％,其后依次为血液(6.09％)、下呼吸道(5.30％)等;真菌感染病原体以白色念珠菌(75.25％)为主,其后依次为光滑念珠菌(10.22％)、热带念珠菌(9.82％)、克柔念珠菌(1.77％)、近平滑念珠菌(1.57％)和丝状真菌(1.38％),药敏试验结果显示,这些真菌对氟康唑、伊曲康唑、5-氟胞嘧啶及两性霉素B均保持良好的敏感性.可能引起深部真菌感染的危险因素有使用激素及抗菌药物、各种侵入性操作的应用、老年人等.结论 减少不必要的侵入性操作,合理使用抗菌药物和激素,早发现、早治疗是防治IC U住院患者深部真菌感染的关键所在.

目的 探讨精神分裂症患者 CYP2D6*10 基因多态性与利培酮( RISP)稳态血药浓度的相关性.方法 以质谱分析法检测99例连续服用RISP达稳态的精神分裂症患者血液中RISP及其代谢产物9羟基-利培酮(9-OH-RISP)的浓度,根据9-OH-RISP/RISP比值,将受检者分为3组,分别为A组35例(比值＜5)、B组26例(比值5~10)和C组38例(比值＞10).以实时荧光PCR分别检测所有受检对象CYP2D6*10等位基因多态性,同时抽取部分样本进行DNA测序,统计分析不同9-OH-RISP/RISP比值与CYP2D6*10基因多态性的相关性.结果 A组35例患者中,CYP2D6*10基因多态性为C/C 4例(11.43%),C/T 6例(17.14%),T/T 25例(71.43%);B 组26 例患者中,C/C 8 例(30.77%),C/T 14 例(53.85%),T/T 4 例(15.38%);C组38例患者中,C/C 17例(44.74%),C/T 21例(55.26%),T/T为0例.不同组别CYP2D6*10等位基因分布差异有统计学意义(P＜0.001).按照基因型进行分类,C/C 基因型组9-OH -RISP/RISP为14.21 ±1.37,C/T基因型组9 -OH -RISP/RISP 为12.31 ±1.15,T/T 基因型组 9 -OH -RISP/RISP 为3.14 ±1.36. T/T组的9-OH-RISP/RISP比值显著低于 C/C 组和 C/T组(P ＜0.000 1),而 C/T组的9 -OH-RISP/RISP比值略低于C/C组,但差异无统计学意义( P=0.87).结论 个体稳态血药浓度9 -OH-RISP/RISP相对比较恒定,且该比值与CYP2D6*10等位基因多态性存在显著的相关性;CYP2D6*10纯合突变对RISP代谢的影响非常明显,而杂合突变型个体对RISP代谢的影响非常小.

Objective To investigate the polymorphism of CYP2C19 gene and the distribution of metabolic phenotypes in bipolar disorder patients of Han nationality in Southern China ,and the relationship between sex and CYP2C19 gene polymorphism will be explored .Methods DNA microarray was used to detect the CYP2C19 gene polymorphism and metabolic phenotype in 1043 bipolar disorder patients ,gene counting meth-ods were used to calculate the genotype frequency and allele frequency ,and the relationship between different gender and the frequency of genetic polymorphism was analyzed .Results Six detected genotype(CYP2C191/1 ,1/2 ,1/3 ,2/2 ,2/3 ,3 /3 ) f requency w ere 40 .6％ ,40 .5％ ,5 .2％ ,9 .9％ ,3 .4％ , 0 .5％ ,the frequency of 3 metabolic phenotypes(extensive metabolizer ,intermediate metabolizer ,poor metabo-lizer) were 40 .5％ ,45 .8％ ,13 .7％ respectively .There was no significant difference in CYP2C19 genotype and metabolic phenotype between different gender groups .Conclusion 1/1 and 1/2 are the main poly-morphism of CYP2C19 in bipolar disorder patients of Han nationality ,681 loci′s mutation frequency is higher than that of 636 ,detection of the CYP2C19 gene polymorphism and metabolic phenotypes contribute to the clinical reasonable medication .

目的证实PS-1环状RNA（Cir-PS1-615）的存在,建立Cir-PS1-615的检测方法,并对其与AD的关系进行初步研究。方法采用反向PCR后克隆测序的方法,在人神经母细胞瘤SY5Y细胞对PS1基因的十二个外显子设计引物分别检测,发现可能存在的环状RNA,并对30例AD患者及对照组全血进行RT-qPCR检测。结果证实了PS1基因第2-5外显子有环状RNA的存在（Cir-PS1-615）,对AD患者与对照组血液进行检测,发现AD患者与对照组血液Cir-PS1-615有差异表达。结论 PS1环状RNA Cir-PS1-615可能成为AD新的临床诊断标志物。

目的:探讨华南地区汉族精神分裂症患者CYP2C19基因多态性及代谢表型的分布,并分析性别与CYP2C 19基因多态性的关系.方法:以DNA微阵列技术检测1562例精神分裂症患者的CYP2C19基因多态性及代谢表型,用基因计数法计算基因型频率和等位基因频率,同时分析基因多态性发生频率与性别的相关性.结果:6种CYP2C19基因型(CYP2C19*1/*1,*1/*2,*1/*3,*2/*2,*2/*3,*3/*3)频率分别为:38.7％、41.9％、6.5％、9.2％、3.5％、0.3％;快代谢型、中等代谢型、慢代谢型所占比例分别为:38.9％、48.2％、12.9％;不同性别间CYP2C 19基因型及代谢表型比较,差异无统计学意义(P＞0.05).结论:华南地区汉族精神分裂症患者CYP2C19基因多态性以*1/*1及*1/*2为主,其分布与性别无关.

Objective To investigate the polymorphism of CYP2C19 gene and the distribution of metabolic phenotypes in dementia patients of Han nationality,and the relationship between sex and CYP2C19 gene polymorphism was explored. Methods DNA microarray was used to detect the CYP2C19 gene polymorphism and metabolic phenotype in 327 dementia patients,and the relationship between different gender and the frequency of genetic polymorphism was analyzed. Results The frequencies of the six detected genotype CYP2C19 *1/*1,*1/*2,*1/*3,*2/*2,*2/*3,and *3/*3 were 37.3%,41.6%, 8.6%,9.5%,2.4%,and 0.6%,respectively;the frequencies of 3 metabolic phenotypes extensive metabolizer,intermediate metabolizer,and poor metabolizer were 38.2%,49.2%,and 12.5%,respectively. There was no significant difference in CYP2C19 genotype and metabolic phenotype between different gender groups. Conclusion The polymorphism of CYP2C19 gene and the distribution of metabolic phenotype in dementia patients of Han nationality in Southern China were consistent with those in other regions of China. Relationship between the CYP2C19 gene polymorphisms and gender was not found.

目的 利用RNA干扰阻抑hTERT和Bi-1基因的表达并诱导人鼻咽癌细胞的凋亡.方法 收集CNE-2Z细胞,设未处理组、Lip组、pcDNA3.1(+)/Lip对照组、TR/Lip组、TRs/Lip组、Bi-1/Lip组、Bi-1 s/Lip组、TR-Bi-1/Lip组和TRs-Bi-1s/Lip组,采用MTT法观察质粒载体及转染试剂对CNE-2Z细胞生长增殖的影响;采用流式细胞术检测CNE-2Z细胞凋亡,Hoechst 33258染色,采用荧光显微镜观察鼻咽癌细胞形态学的变化.结果 TR、Bi-1和TR-Bi-1组的CNE-2Z细胞增殖能力显著降低,且TR-Bi-1组的生长增殖能力最低(P＜0.05);凋亡细胞有所增加.转染TR、Bi-1和TR-Bi-1重组质粒48 h后,荧光显微镜下可见部分鼻咽癌细胞出现典型的凋亡形态学变化;而pcDNA3.1(+)、TRs、TRs-Bi-1s、Lip和未处理组则无明显变化.结论 双基因表达载体可以同时特异、有效地沉默hTERT和Bi-1两种基因,与沉默单基因的效果相比较,双基因沉默组鼻咽癌CNE-2Z细胞的增殖率受到明显抑制.

目的 探讨红细胞脆性、MCV、MCH、HbA2在诊断地中海贫血中的应用价值.方法 采用回顾性分析的方法,分析同时进行地中海贫血筛查及基因诊断的930例患者的检查结果,并将其分为对照组、贫血组、α-地贫组和β-地贫组.结果 地贫组与贫血组在MCV和MCH方面差异无统计学意义(P＞0.05),在红细胞脆性方面差异有统计学意义(P＜0.05);ROC曲线下的面积中,α-地贫组中所有参数的面积均未达到90％,β-地贫组中红细胞脆性和HbA2的面积均达到90％,而MCV和MCH的面积较小;红细胞脆性、MCV、MCH、HbA2在α-地贫组中的最佳诊断截断值分别为:50.50、71.65、23.25、2.65,在β-地贫中的最佳诊断截断值分别为48.50、71.05、23.10、3.55.结论 红细胞脆性、MCV、MCH、HbA2四个参数在诊断地中海贫血方面有一定的作用,多个参数综合考虑可为临床诊断地中海贫血提供更准确的参考依据.

Objective To investigate the relationship of apolipoprotein E (ApoE) allelic frequency and serum lipid levels in patients with Alzheimer′s disease (AD). Methods DNA microarray was used to detect the ApoE genotypes of AD patients (n = 200) and age-matched non-demented elderly control subjects (n = 159). Serum lipid levels was measured by Immunoturbidimetric assay at the same time. We analyzed the ApoE genotype distribution and the relationship of apolipoprotein E ( ApoE ) allelic frequency and serum lipid levels . Results The ApoE ε4 allelic frequencies (25.5%) in AD group is higher than that of the control group (7.9%) (P < 0.05). The ε2 allele was associated with a higher ApoE concentration, whereas with a mediate concentration in ε3 and the lowest concentration ( P < 0 . 05 ) in ε4 . Serum concentrations of ApoE showed no significant difference between AD patients and the healthy population who were with the same genotype (P > 0.05). Conclusion The ApoE levels are negatively related to ApoE ε4 allele frequency and have no significant differences with the same genotype in AD and the control group,which suggests that lower serum ApoE levels in AD patients is caused by higher ApoE ε4 allelic frequency in AD than in healthy population.

Objective To investigate the application value of apolipoprotein E (ApoE) genotyping by DNA microarray technology and the relationship between ApoE allelic frequency and serum ApoE levels in both healthy individuals and patients with Alzheimer ′s disease (AD).Methods This research is case-control study.DNA microarray was used to detect the ApoE genotypes of AD patients (n =280) and age-matched non-demented elderly control subjects ( n =230) .The cases and controls were collected in Guangzhou Huiai Hospital during July 2014 to September 2015.The accuracy of genotype results was verified by DNA sequencing.Serum ApoE levels were measured by immunoturbidimetric assay .The ApoE genotype distribution and the relationship between ApoE allelic frequency and serum ApoE levels were analyzed.The “t” test was used to compare the ApoE levels of AD patients and controls , variance analysis was used to analyze ApoE levels in the persons with different genotype .Results DNA microarray technology genotyping results were completely consistent with the results of DNA sequencing .In AD group, the ApoE genotype distribution were 2.9%(8 /280) for ε2ε3, 1.8% (5/280) for ε2ε4, 46.8% (131/280)for ε3ε3,45.4%(127 /280) for ε3ε4 and 3.1%(9 /280) for ε4ε4.While in the control group, the ApoE genotype distribution were 0.9%(2 /230) for ε2ε2, 12.6% (29/230)for ε2ε3, 1.3%(3 /230) forε2ε4, 70.0% (161 /230) for ε3ε3 and 15.2% (35 /230) for ε3ε4.The average serum concentrations of ApoE were (33.29 ±10.87)mg/L in AD patients and (41.28 ±10.95)mg/L in the controls.Among all participants, the average serum levels of ApoE were (50.86 ±6.21) mg/L for ε2 carriers, (38.78 ± 12.07)mg/L for ε3 carriers and (30.47 ±7.68)mg/L for ε4 carriers.In AD group,ApoE level of ε2, ε3,ε4 carriers is (50.31 ±9.08)mg/L, (38.30 ±7.60) mg/L and (32.86 ±5.93)mg/L respectively.In the control group, the ApoE level of ε2, ε3, ε4 carriers is (51.00 ±5.53)mg/L, (41.01 ±10.09)mg/L and (32.86 ±5.93)mg/L respectively.The ApoE levels of persons with different ApoE alleles are ε2 >ε3 >ε4. The difference is significant (F =89.6, P <0.05).However, the ApoE levels in persons with the same ApoE genotype between healthy individuals and AD patients have no significant difference ( t =0.981, 2.878 and 1.732 respectively, P >0.05) .Conclusions DNA microarray technology possesses high efficiency and favorable accuracy.The ε2 allele is associated with a higher ApoE concentration , ε3 allele with a mediate concentration and ε4 allele with a lowest concentration.Serum concentrations of ApoE showed no significant difference between AD patients and the healthy groups who have the same genotype .The primary cause of the low serum ApoE levels in AD patients is that the ApoE ε4 allelic frequencies of them are higher than that of the healthy persons.

Objective To investigate the association between cognitive impairment and levels of serum cortisol in patients with late - life depression(LLD). Methods We included 35 LLD patients with cognitive impairment,14 LLD patients without cognitive impairment and 25 normal controls. The Hamilton Depression Scale - 17 item( HAMD - 17)and Mini Mental State Examination (MMSE)were used to assess the severity of depressive symptoms and the cognitive function,respectively. Serum cortisol levels were measured by radioimmunoassay. Results Serum cortisol levels in LLD patients with cognitive impairment were significantly higher than those in LLD patients without cognitive impairment and normal controls(All P < 0. 01). LLD patients with cognitive impairment in episode stage and those in remitted stage showed significantly higher serum cortisol levels than LLD patients without cognitive impairment in remitted stage and normal controls(All P < 0. 05). Conclusion The findings suggest that,in both episode and remitted stages,LLD patients with cognitive impairment show increased serum cortisol levels. High cortisol level might be associated with impaired cognitive function in LLD patients.

目的:了解广州市精神病医院美沙酮门诊海洛因依赖人群HCV和梅毒感染及物质滥用情况,为制定相应的防治措施提供科学依据.方法:采集自2012年以来广州市精神病医院美沙酮门诊海洛因依赖人群静脉血标本共计343例,进行抗-HCV和梅毒检测,随机抽取68例做尿液滥用物质六项筛查.结果:343例海洛因依赖人群中HCV阳性302例,占88.0％(302/343);梅毒阳性31例,占9.0％(31/343);HCV/梅毒合并感染27例,占7.9％(27/343).68例尿液标本中吗啡阳性58例,占85.3％(58/68);氯胺酮阳性26例,占38.2％ (26/68);甲基苯丙胺阳性26例,占38.2％ (26/68);吗啡/氯胺酮(+/+)26例,占38.2％(26/68);吗啡/甲基苯丙胺(+/+)20例,占29.4％(20/68);吗啡/氯胺酮/甲基苯丙胺(+/+/+)8例,占11.8％ (8/68).结论:广州市精神病医院美沙酮门诊自2012年1月至2015年7月海洛因依赖人群HCV和梅毒感染率较高,合并存在吗啡、氯胺酮和甲基苯丙胺等物质滥用情况,建议针对在美沙酮门诊治疗的吸毒者情况展开多种疾病和物质滥用的宣传教育和综合干预,并且持续开展HCV和梅毒以及滥用物质检测.

目的：评估CYP2C19基因多态性对老年精神科患者血药浓度的影响。方法随机抽查老年精神科患者70例，检测 CYP2C19基因型，同时监测患者口服的主要精神类药物的血药浓度，口服相同剂量精神类药物时，比较不同CYP2C19基因型患者的血药浓度差异。结果在口服0.5 g／d丙戊酸钠（德巴金）或20 mg／d的艾司西酞普兰患者中，不同CYP2C19基因型患者的丙戊酸及西酞普兰血药浓度无统计学差异（P＞0.05）。结论在中国南方老年精神科患者中，CYP2C19基因多态性对精神类药物代谢未见明显影响。

目的 检测不同水平同型半胱氨酸(HCY)患者5,10-亚甲基四氢叶酸还原酶(MTHFR)基因第677核苷酸的突变频率,探讨MTHFR基因多态性与不同HCY水平的相关性.方法 以HCY大于15 μmol/L的受检者(435例)作为实验组,将实验组按照HCY水平分成4组:15 μmol/L＜ HCY≤20 μmol/L为第一组;20 μmol/L＜HCY≤25 μmol/L为第2组;25 μmol/L＜ HCY≤30μmol/L为第3组;HCY＞ 30 μmol/L为第4组,同时以HCY≤15 μmol/L的人群(229例)为对照组.用DNA微阵列技术检测实验组和对照组MTHFR基因第677核苷酸的突变,统计分析各组MTHFR基因型及等位基因频率分布.结果 MTHFR基因677位核苷酸由C变异为T与HCY水平显著相关(x2=180.16,P＜0.0001),且随着HCY水平升高T等位基因频率呈增大趋势,经线性趋势检验有统计意义(x2=156.67,P＜0.0001);同时,单独一组与对照组比较,MTHFR基因型和等位基因频率分布没有显著差异(x2=0.031,P＞0.05).结论 MTHFR 677位等位基因由C突变为T是导致HCY水平明显升高的重要原因,而且是导致HCY＞ 30 μmol/L的主要原因;而HCY轻度升高(15 μmol/L＜ HCY≤20 μmol/L)可能为其它原因所致,并非MTHFR基因突变引起.

传染性疾病往往具有较大的传染性,易于大面积流行,且难以控制,严重危害人们生命健康,快速准确的筛查成为预防及控制其传播的重要手段之一。Micro RNA(mi RNA)是一类长度仅有约22nt的非编码单链微小RNA,广泛存在于动植物真核细胞中,主要通过与靶m RNA分子的3'端非编码区域(3'-untranslated region,3'UTR)完全或不完全互补配对,调控该m RNA分子的表达或转录后翻译;在细胞生长、发育、凋亡,肿瘤形成,病毒感染等多种生理病理过程中起重要作用。在病毒感染时,mi RNA调控病毒与宿主之间的相互作用,影响病毒感染的进程与结局;感兴趣的是,mi RNA其自身的表达对病毒感染具有一定的特异性。因此,mi RNA有望成为筛查病毒传染性疾病的临床标志物,目前已成为一热点研究领域。本文主要从循环体液中mi RNA的稳定性,mi RNA在病毒感染中的特异性表达,以及mi RNA检测技术方面做简要综述,并对mi RNA作为传染病一种新型检测标志物的可行性进行了初步的分析。