蛋白激酶Cξ亚型基因内SNP的连锁不平衡分析

目的：对中国北方汉族人群2型糖尿病候选易感基因蛋白激酶Cξ亚型（PRKCZ）内的单核苷酸多态性（single nuceotide polymorphism,SNP),标记进行群体相关分析及连锁不平衡（linkage disequilibrium,LD)分析,寻找疾病相关单体型。方法：通过生物信息学方法公共SNP数据库中查找PRKCZ基因中的SNP位点,用单碱基延伸反应（single base extension,SBE)法对北方汉族散发2型糖尿病患者173例及对照组152例进行分型及病例－对照关联分析和LD分析,构建SNP单体型区段（haplotype block)。结果：PRKCZ基因中有多个SNP位点与疾病相关,它们在病例组和对照组构成不同的hahpltype block结构,由5个SNP位点组成的单体型频率在两组人群间存在显著差异,结论：PRKCZ基因内由5个SNP位点组成的单体型可能和中国北方汉族人2型糖尿病相关,进一步从统计学角度证了PRKCZ基因为该人群疾病易感基因。     

ITGA9基因rs189897与rs2212020及其单体型分子标志影响脑梗死发生

摘要：目的研究ITGA9 基因rs189897 和rs2212020 位点及其单体型与脑梗死的关系。方法在脑梗死和正常对照样本
中,利用PCR-测序方法对rs189897和rs2212020位点进行基因分型,分型结果经SHEsis软件进行单个位点以及两个位点
构建的单体型与疾病关联性进行分析。结果rs189897和rs2212020位点等位基因频率、等位基因型频率在脑梗死患者和
正常对照人群中的分布存在统计学差异（P<0.05）,同时还发现其A-C单体型为脑梗死发病的保护因子,拥有该单体型的
个体发生脑梗死的机率为不拥有该单体型个体的0.130倍。结论ITGA9基因rs189897、rs2212020位点与脑梗死发病密
切相关,其A-C单体型分子标志是脑梗死发生的保护因子。     

血管紧张素转化酶基因位点多态性与阿尔茨海默病的相关性

目的探讨血管紧张素转化酶（ACE）基因位点多态性与阿尔茨海默病的关系。方法采用病例对照研究方法,选取201例
AD患者为AD组,选取年龄及性别相匹配的非AD健康体检者257例为对照组。运用PCR扩增及飞行时间质谱（MALDI-TOF
MS）技术分别检测ACE基因的rs4291、rs4309、rs4343位点,然后分析比较AD组和对照组的基因型、等位基因频率以及单体型
频率的差异。结果AD组rs4291位点基因型频率及等位基因型频率与对照组之间差异无统计学意义（P>0.05）;AD组的rs4309
位点基因型频率和等位基因型频率与对照组之间差异均有统计学意义,AD组C等位基因频率显著升高（OR=1.917,95% CI=
1.431-2.568,P<0.05）;AD组rs4343位点基因型频率与对照组之间差异无统计学意义,但等位基因频率差异有统计学意义,AD
组A等位基因频率显著降低（OR=0.714,95% CI=0.532-0.957,P=0.024）;rs4291、rs4309、rs4343位点连锁不平衡性检测结果显
示：该三个位点两两之间D’值均大于0.65,单体型分析显示其内部构成ATA、ACA、TCA、TCG、TTG五个单体型,其中ATA单体
型可能与AD发病负相关（OR=0.558,95% CI=0.420-0.741,P<0.05）;ACA、TCA 单体型可能与AD发病正相关（ACA：OR=
4.883,95% CI=2.267-10.518,P<0.05;TCA：OR=2.269,95% CI=1.083-4.754,P<0.05）。结论ACE基因rs4291位点基因多态性
可能与AD的发病无关;ACE基因rs4309、rs4343位点多态性可能与AD的发病相关;ACE基因rs4291/rs4309/rs4343 SNPs位点
构成的ATA、ACA、TCA单体型可能与AD的发病相关。
     

葡萄糖激酶基因启动子区-30位G/A变异与2型糖尿病的相关性研究

目的探讨葡萄糖激酶基因-30位启动子G/A变异与中国云南人2型糖尿病是否存在关联.方法运用PCR-RFLP分析方法在389例无亲缘关系之中国云南汉族人中对GCK基因变异进行检测.结果在2型糖尿病患者组中GG、GA和AA基因型频率分别为63.1%、31.9%和5.0%;健康对照者组中分别为66.4%、31.8%和1.8%,A等位基因频率在2型糖尿病患者组中和健康对照组中分别为21.0%和17.7%,基因型频率以及等位基因频率在2型糖尿病患者与健康对照者两组之间无显著性差异.结论在中国云南昆明地区的汉族人中存在胰岛β细胞GCK基因启动子-30位G/A变异的多态性,此G/A变异虽然可能对胰岛β细胞功能降低起促进作用,但在无其它相关基因变异以及糖尿病易感因素的存在下,对2型糖尿病的发生不起主要作用,也可以说此多态性与2型糖尿病不存在关联.     

肺表面活性蛋白D基因多态性与RSV毛细支气管炎的关系

目的探讨杭州地区肺表面活性蛋白（surfactant protein,SP）-D基因变异是否与儿童呼吸道合胞病毒（respiratory syncytial virus,RSV）毛细支气管炎易感性有关。方法采用MGB测序法检测150例RSV毛细支气管炎和150例健康对照组SP-D基因2个位点的多态性,并进行基因型、等位基因型频率分析。各组的基因型、等位基因型频率比较采用χ2检验。结果病例组SP-D Met11Thr位点TT、CT、CC三种基因型频率分别为7.3%、44.0%、48.7%,T、C等位基因频率分别为29.3%、70.7%。三种基因型及等位基因频率与对照组比较差异有统计学意义（χ^2=6.751、5.823,P〈0.05）。SP-D Ala160Thr位点AA、GA、GG三种基因型频率分别为4.0%、29.3%、66.7%,A、G等位基因频率分别为18.7%、71.3%,2组基因型及等位基因频率与对照组比较无统计学意义（χ^2=0.182、0.181,P〉0.05）;但该位点A、G等位基因在轻中度和重度患儿间的差异有统计学意义（χ^2=3.954,P〈0.05）,携带A等位基因的个体患重度RSV毛细支气管炎的风险升高。结论杭州地区汉族儿童存在SP-D基因多态性,SP-DMet11Thr位点与RSV毛细支气管炎疾病易感性存在关联,C等位基因可能是易感基因;而SP-D Ala160Thr位点与RSV毛细支气管炎疾病易感性未存在关联。SP-D Ala160Thr等位基因A可能是影响RSV毛细支气管炎严重程度的一个候选基因。     

心血管疾病易感基因SNPs在中国汉族人原发性高血压患者中的分布

目的：了解中国人群中16个原发性高血压（Essen-tial hypertension,EHT）候选基因的基因型和单体型分布情况及与EHT的关系.方法：采用基因芯片技术和Phase v2.1单体型分析软件,检测和分析140例EHT患者和400例健康对照者16个心血管疾病易感基因的基因型和单体型.结果：EHT组和健康对照组间的AGT235,ApoBXalI和ACEAlu等位基因频率差异显著（P〈0.05）,且ACEAlu在不同等级的高血压中的分布亦具有显著差异（P〈0.05）.人群中共有918种单体型,单体型MIEG＋-C3CC在两组间分布差异分析,P=0.052.结论：AGT235M,ACEAluD和ApoBXalI＋可能与中国汉族人群原发性高血压有关.     

FAT10基因单核苷酸多态性与肝细胞癌发生相关性分析

目的:探讨FAT10基因单核苷酸多态性与肝细胞癌发生的相关性。方法:对肝细胞癌患者和健康对照者共250例进行DNA测序检测FAT10基因SNPs,分析不同基因型与肝癌的相关性。结果:两组研究对象共测得SNPs位点7个,与相应的野生型纯合子相比,+3476T/C、+3607C/G、+3620C/G以及+3809G/T基因型可显著降低肝癌的发生(P<0.05),但上述多态性位点基因型出现频率与肝癌表型无明显关联(P>0.05)。单体型分析结果表明,各变异等位基因在两组研究对象内均有遗传连锁不平衡现象,常见单体型有AGCTCGT、GGCTCGT、AATCTCG以及AATTTCG四种,AGCTCGT单体型和GGCTCGT单体型可能对肝癌的发生有保护下作用(OR=0.412,95%CI:0.231~0.713;OR=0.434,95%CI:0.221~0.834),AATTTCG单体型可能对肝癌的发生有促进作用(OR=1.644,95%CI:1.242~2.174)。结论:FAT10基因外显子和侧翼序列SNPs单核苷酸多态性与肝细胞癌发生具有相关性。     

撒丁人群中HLA区域内基因位点间的相互作用影响多发性硬化症的病程

先前的研究发现撒丁人群中HLA基因位点与多发性硬化症（MS）有关，本研究在835例复发型（R）和100例原发进展型（PP）患者中探讨等位基因对临床病程的影响。对易感基因0301或不相关的DPB1等位基因、易感的或不相关的DRB1-DQB1单体型、既易感又不易感以及负相关的和非负相关的D6S1683等位基因进行多变量分析，并将其相互作用考虑在内。患者个体内的分析显示，易感或保护性D6S1683等位基因的存在与易感基因DP0301间的相互作用调节PP的患病风险。上述发现提示HLA-Ⅰ类基因末端的基因位点影响DPB1基因位点而调节疾病的病程。     

温州汉族群体3个Y-STR基因座的遗传多态性调查

目的:获得温州汉族Y-DNA位点:DYS385、DYS392、DYS448的基因频率,并能应用这些资料进行人类遗传学研究和法医学应用.方法:以Chelex法提取外周血DNA,PCR扩增短串联重复(STR)位点DYS385、DYS392、DYS448后,用聚丙烯酰胺电泳系统进行分型.结果:在172个标本中,共检测到DYS392的5个等位基因,基因频率分别为0.0872、0.0756、0.4709、0.2500、0.1163.基因变异度为(GD)0.6929;检测到DYS448的6个等位基因,基因频率分别为0.0116、0.3372、0.3198、0.2674、0.0465、0.0174.基因变异度为0.7141;检测到DYS385的47个单倍型,基因变异度为0.9689.三个位点的基因变异度累计为0.9938.结论:Y-DNA位点:DYS385、DYS392、DYS448是三个具有法医学和群体遗传学应用价值的位点.     

中国人CAPN10基因单核苷酸多态性的分布及其在北方汉族2型糖尿病人群中的关联分析

目的 检测始发现于墨西哥裔美国人群中的2型糖尿病易感基因CAPN10的苷酸多态性（single nucleotide polymorphism,SNP)在中国人群中的分布,并探讨其与中国北方汉族人群2型糖尿病的关联关系。方法 对27份取自中国不同民族人群DNA标本进行测序,以确定CAPN10基因中的SNP位点分布;选择其中5个位点,用单碱基延伸（single-extension,SBE)法对156例北方汉族正常人和173例2型糖尿病患者DNA标本进行SNP分型及病例－对照关联分析;对文献报道的易感基因CAPN10中的3个阳性位点进行单体型分析,并对其中1个位点在68个2型糖尿病家系（377例）中进行传递不平衡检验（transmission-disequilibrium test,TDT)和同胞传递不平衡检验（sib transmission-disequilibrium test,STDT）。结果 在所检测的8936bp长度范围内共检出40个SNP,平均约223bp1出现一个SNP,各多态性在基因中呈不均匀分布;中国人CAPN10的SNP与文献报道的墨西哥裔美国人群中该基因多态性存在较大的差异;所选择的5个SNP位点等位基因频率分布在正常人群和2型糖尿病患者间的差异无统计学意义（P＞0.05);上述3个阳性位点单体型频率在两组人群间差异无统计学意义（P＞0.05);TDT和STDT均无统计学意义（P＞0.05)。结论 CAPN10基因SNP具有民族差异;所检测的几个位点可能不是中国北方汉族2型糖尿病的主要易感基因位点。     

Functional polymorphism in exon 5 and variant haplotype of the interleukin-1 receptor-associated kinase 1 gene are associated with susceptibility to and severity of sepsis in the Chinese population

Background  The interleukin-1 (IL-1) receptor-associated kinase 1 (IRAK1) is believed to play an important role in the pathogenesis of sepsis. Recent studies have suggested that the IRAK1 functional genetic variant could affect the severity of sepsis in Caucasians. In this report, we have investigated whether polymorphisms at the IRAK1 gene are associated with the susceptibility to and severity of sepsis among the Chinese population.

Methods  Haplotype-tagging single nucleotide polymorphisms (htSNPs) were selected from the HapMap database. They were genotyped in 255 patients with sepsis and 260 control subjects by PCR/restriction fragment length polymorphism (RFLP) analysis. The association between the selected htSNPs and the susceptibility to and severity of sepsis were estimated by Logistic regression with adjustments for age, sex, smoking, drinking, chronic disease status, Acute Physiology and Chronic Health Evaluation (APACHE) II score and primary diseases.

Results  rs1059702 was selected to represent the six linked htSNPs for IRAK1. Genotype frequencies of the htSNPs were in Hardy-Weinberg equilibrium for females, as were allele frequencies for both sex groups. Associations were observed in females between the htSNPs C/C genotype and increased susceptibility to sepsis (odds ratio (OR), 5.46; 95% confidence interval (CI), 1.12–26.67; P=0.018), and such associations were also observed between the IRAK1 variant haplotype (CC/C-allele) and increased susceptibility to sepsis (OR, 1.68; 95% CI, 1.05–2.70; P=0.031) when compared with the T/T + T/C genotype and the wild-type haplotype (TC + TT/T-allele). In the multiple organ dysfunction syndrome (MODS) subgroup, the variant haplotype was also associated with increased severity of sepsis (OR, 2.37; 95% CI, 1.13–4.94; P=0.02) when compared with the wild haplotype. This association was not significant in male patients.

Conclusions  The functional polymorphism in exon 5 and the variant haplotype of IRAK1 gene mediate susceptibility to and severity of sepsis. IRAK1 might be a genetic risk factor for the occurrence and development of sepsis in the Chinese population.

     

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

CONTEXT: The human tau gene, which promotes assembly of neuronal microtubules, has been associated with several rare neurologic diseases that clinically include parkinsonian features. We recently observed linkage in idiopathic Parkinson disease (PD) to a region on chromosome 17q21 that contains the tau gene. These factors make tau a good candidate for investigation as a susceptibility gene for idiopathic PD, the most common form of the disease. OBJECTIVE: To investigate whether the tau gene is involved in idiopathic PD. DESIGN, SETTING, AND PARTICIPANTS: Among a sample of 1056 individuals from 235 families selected from 13 clinical centers in the United States and Australia and from a family ascertainment core center, we tested 5 single-nucleotide polymorphisms (SNPs) within the tau gene for association with PD, using family-based tests of association. Both affected (n = 426) and unaffected (n = 579) family members were included; 51 individuals had unclear PD status. Analyses were conducted to test individual SNPs and SNP haplotypes within the tau gene. MAIN OUTCOME MEASURE: Family-based tests of association, calculated using asymptotic distributions. RESULTS: Analysis of association between the SNPs and PD yielded significant evidence of association for 3 of the 5 SNPs tested: SNP 3, P =.03; SNP 9i, P =.04; and SNP 11, P =.04. The 2 other SNPs did not show evidence of significant association (SNP 9ii, P =.11, and SNP 9iii, P =.87). Strong evidence of association was found with haplotype analysis, with a positive association with one haplotype (P =.009) and a negative association with another haplotype (P =.007). Substantial linkage disequilibrium (P<.001) was detected between 4 of the 5 SNPs (SNPs 3, 9i, 9ii, and 11). CONCLUSIONS: This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD.     

Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants

Background  Previous reports indicated that mutations in the adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been characterized at the population level in Caucasians. But the role of ABCA3 in relation to respiratory distress syndrome (RDS) in newborns has not been evaluated within a Chinese population. The aim of this study was to analyze eight single-nucleotide polymorphisms (SNPs) of the ABCA3 gene, and to assess the ABCA3 gene as a candidate gene for susceptibility to RDS in newborns.

Methods  Eight SNPs were selected and genotyped in 203 newborns. The data analysis and statistical tests were used for allele frequencies, haplotype and Hardy-Weinberg equilibrium pairwise linkage disequilibrium measures.

Results  There was a haplotype association with SNP rs313909 and SNP rs170447, but no haplotype association was observed among the newborns with and without RDS (P >0.05). The minor allele frequency (G) of the coding SNP (cSNP) rs323043 (P585P) was significantly increased in preterm infants with RDS.

Conclusion  There is an association between a synonymous cSNP rs323043 and the development of RDS.

     

应用单核苷酸多态性技术筛查2型糖尿病易感基因

目的利用单核苷酸多态性(SNP)标记,在中国北方汉族2型糖尿病相关基因定位区域(1p36.33-p36.23、1q24.3-25.1及1q42.12-42.13)内寻找疾病易感基因位点以及与疾病相关的单倍型.方法通过公共SNP数据库和对样本库全基因测序寻找SNP位点的途径,在定位区域内选择了33个候选基因中的124个SNP位点,用测序法对236例北方汉族散发2型糖尿病患者及152例正常对照个体进行SNP基因分型及病例-对照关联分析,并对具显著性差异的SNP位点进行单倍型分析.结果124个SNP位点中有4个SNP位点的分布频率在病例组和正常对照组存在显著差异(P＜0.05),分别为sAC基因中的rs203849(P=0.005,OR=1.60)和rs203826(P=0.016,OR=1.60),PANK4基因中的rs7535528(P=0.028,OR=1.45)和CASP9基因中的rs884363(P=0.043,OR=1.37).在这4个SNP位点构成的组合型中发现,有2种组合型的频率分布在病例组与对照组之间差异有显著性(P＜0.001).此外,对sAC基因的单倍型分析发现,有4种单倍型与疾病发生相关.结论sAC、PANK4和CASP9基因为中国北方汉族人群2型糖尿病候选易感基因,这3个基因可能在2型糖尿病易感性上有协同作用.     

Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese

Background  Genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia. Here, we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.

Methods  We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls. We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms, rs2274305 and rs6456593, in each sample using SNaPshot single nucleotide extension. We compared the allele and genotype frequencies between the groups using the χ² test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression. We also predicted haplotypes and compared their frequencies between the two groups.

Results  The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene, rs2274305 and rs6456593, between the two dyslexic and non-dyslexic groups were statistically meaningless (P >0.05). The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P >0.05).

Conclusion  The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese. However, methodological issues may have prevented the detection of positive associations.

     

硒蛋白P基因多态性与结直肠癌遗传易感性的关联性分析

目的:探讨硒蛋白P(Sepp1)基因rs7579位点单核苷酸多态性(SNPs)与结直肠癌遗传易感性的关系,为结直肠癌的遗传学机制研究提供理论依据。方法:采用病例对照研究方法,采用四引物扩增阻碍突变体系聚合酶链反应(tetra-primer ARMS-PCR)技术检测130例结直肠癌患者及153名体检健康者Sepp1基因rs7579位点基因型和等位基因频数,并经测序验证。分析Sepp1基因rs7579位点基因型、等位基因与结直肠癌遗传易感性的关联性,并分析不同临床特征结直肠癌患者Sepp1基因rs7579位点基因型与结直肠癌遗传易感性的关联性。结果:结直肠癌组和健康对照组研究对象Sepp1基因 rs7579 位点多态性分布情况均符合Hardy-Weinberg平衡(P>0.05),结直肠癌组患者和健康对照者Sepp1基因rs7579位点GG、GA和AA基因型频数及G、A等位基因频数比较差异无统计学意义(P>0.05)。分层分析,年龄≥55岁组中,结直肠癌组和健康对照者组研究对象rs7579位点GG、GA和AA基因型频数比较差异有统计学意义(χ²=3.228,P=0.050),结直肠癌组患者AA基因型频率明显低于健康对照组(χ²=3.228,P=0.050,OR=0.566,95%CI:0.320-0.999)。结论:Sepp1基因rs7579位点多态性与结直肠癌的发病无关联,A等位基因可能是55岁以上中国人群降低结直肠癌发病的保护性因素之一。     

CD14和IL-8基因多态性与新生儿坏死性小肠结肠炎易感性的关联性分析

目的：探讨白细胞分化抗原14（CD14）-159C/T（rs2569190）和白细胞介素8（IL-8）-251A/T（rs4073）基因多态性与坏死性小肠结肠炎（NEC）易感性之间的关系,阐明NEC易感性的可能影响因素,为NEC的发病机制研究提供遗传学理论依据。方法：选取28例NEC新生儿（NEC组）和41例非NEC新生儿（对照组）作为研究对象,提取并应用基因聚合酶链式反应（PCR）扩增其外周血DNA,并采用Sanger基因测序方法,检测CD14-159C/T和IL-8-251A/T区域的等位基因频数和基因型频数的分布,探讨其与NEC易感性的关联性。结果：CD14-159C/T和IL-8-251A/T位点基因型频数分布符合Hardy-Weinberg平衡定律（P>0.05）;CD14-159C/T的等位基因和基因型频数分布在2组间比较差异无统计学意义（P>0.05）;IL-8-251A/T位点的基因型频数分布在2组间比较差异无统计学意义（P>0.05）;而NEC组IL8-251A/T基因位点T等位基因频数分布高于对照组（χ²=4.184,P=0.041,OR=2.14,95% CI：1.03~4.46）。结论：CD14-159C/T的基因位点多态性和NEC的发病无关联,而IL-8基因的-251 T位点与NEC发病易感性存在关联,IL-8基因的-251 T等位基因突变可能是NEC的危险因素之一。     

FVLeiden和FⅡG20210A与中国汉族深静脉血栓形成的相关性

目的 探讨FV_(Leiden)及FⅡG20210A与中国汉族深静脉血栓形成(DVT)的相关性。方法 采用PCR—单链构象多态性分析、PCH—限制性片段长度多态性分析及DNA测序技术,对经过筛选的62例汉族DVT患者和50例非血栓病正常汉族人进行FV_(Leiden)及FⅡG20210A分析。结果 112例研究对象中未发现FV_(Leiden)及FⅡG20210A变异。在FV基因1628位发现一单核苷酸多态性G/A,G与A等位基因频率分别为0.893和0.107。病例组与对照织无显著性差异,与高加索人比较有显著性差异(P<0.01)。结论 FV_(Leiden)及FⅡG20210A可能与中国汉族DVT无相关性,也不存在于正常汉族人。FV1628G/A属中性多态现象,具有种族差异性。     

雌激素受体α基因多态性与良性前列腺增生相关研究

目的：探讨雌激素受体α基因PvuII和XbaI位点的单核苷酸多态性与良性前列腺增生（BPH）发病风险的关系。方法：收集112例BPH患者和111例健康对照人群的外周血标本,应用PCR-RFLP技术分析雌激素受体α基因PvuII和XbaI的单核苷酸变异,采用非条件logistic回归分析和计算其基因型和等位基因频率。结果：PvuII和XbaI位点基因型符合Hardy-Weinberg平衡检验;PvuII位点以杂合子基因型Pp占多数（占44.84%）,基因型PP最少（占14.35%）;XbaI位点以纯合子基因型xx为主,为64.13%;XX最少,为4.48%;比较PvuII和XbaI位点的基因型和等位基因在BPH患者和健康对照中的分布频率,差异均无显著性（P〉0.05）;雌激素受体α基因PvuII与XbaI位点间具有较强的连锁不平衡效应（D’=0.958,r2=0.398）。单体型分析显示pX在BPH患者中的分布显著高于健康对照人群（P=0.032108,OR=6.394,95%CI：0.919～44.517）,提示单体型pX是BPH发生的易感因素。结论：雌激素受体α基因的单核苷酸多态性与前列腺增生发病存在一定的相关性。     

DTNBP1基因多态性与精神分裂症的关系

目的: 探讨中国北方汉族人群DTNBP1基因多态性与精神分裂症的关系。方法: 采用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)方法,对106个精神分裂症核心家系(患者及其健康父母)中DTNBP1基因上rs9476867位点单核苷酸多态性(SNP)进行检测,应用遗传学统计方法对基因分型资料进行单倍型相对风险分析(HRR)和传递不平衡检验(TDT)。结果: rs9476867位点基因型频数分布符合Hardy-Weinberg平衡定律(P>0.05)。HRR分析结果表明,rs9476867位点(G/A碱基互换)等位基因频数在病例组和对照组中分布差异无显著性(χ²=0.706,P>0.05);TDT分析结果表明,杂合子父母双亲的rs9476867位点等位基因传递概率没有偏离50% (χ²=0.641,P>0.05)。结论: DTNBP1基因上rs9476867位点基因多态性与精神分裂症无关联。