男性精神分裂症患者5-HT2A受体基因T102C多态性与迟发性运动障碍的关联

目的探讨5-羟色胺2A(5-HT2A)受体基因T102C多态性与精神分裂症伴迟发性运动障碍(TD)的相关性.方法用异常不自主运动量表(AIMS)评定男性精神分裂症患者;对42例符合TD(AIMS总分≥3分)者和与TD组严格相匹配的51例非TD者,采用简明精神病评定量表(BPRS)评定精神症状;应用聚合酶链反应-限制性片段长度多态性方法分析5-HT2A受体基因T102C多态性的分布频率.结果(1)经吻合度检验,TD组、非TD组的5-HT2A受体基因T102C多态性位点的基因型分布均符合Hardy-Weinberg平衡法则(χ2分别为0.06、0.02,ν均=2,P均＞0.05)(2)TD组与非TD组的基因型总体分布的差异无显著性(χ2=4.37,ν=2,P＞0.05),等位基因频率分布的差异有显著性(χ2=4.36,ν=1,P＜0.05).(3)TD组的AIMS和BPRS的评分分别为(6.5±1.8)分和(51.2±7.8)分,非TD组分别为0分和(50.3±7.4)分,差异无显著性(P＞0.05).结论5-HT2A受体基因的T102C多态性可能与男性精神分裂症患者的TD相关联.     

5-HTR2A基因启动子区-1438G/A多态性与抗精神病药源性肥胖的核心家系关联研究

目的探讨中国汉族首发精神分裂症(schizophrenia,SCH)患者抗精神病药物(antipsychoticagents,APS)治疗过程中体重增加是否与五羟色胺2A受体(5-hydroxytryptamine2Areceptor,5-HTR2A)基因启动区-1438G/A多态性相关。方法对84例首发精神分裂症患者(包含完整核心家系70个)APS(氯丙嗪或利培酮)单药治疗10周,治疗前后测量体重并计算体重指数。采用聚合酶链反应-限制性片段长度多态技术分析5-HTR2A基因启动区-1438G/A多态性基因型和等位基因分布频率,进行APS所致体重增加与5-HTR2A基因启动区-1438G/A多态性的相关分析、传递不平衡检验及数量性状传递不平衡检验。结果治疗10周后患者体重较基础体重增加(8.00±6.13)%。APS治疗10周后,体重增加≥7%和<7%患者组间,5-HTR2A基因-1438G/A多态性各基因型和等位基因分布频率差异均无统计学意义(P>0.05)。5-HTR2A基因-1438G/A多态性的各基因型之间各项指标的差异均无统计学意义(P>0.05);同时未发现5-HTR2A基因-1438G/A在不同体重增加组间存在传递不平衡。结论5-HTR2A基因-1438G/A多态性可能不是影响APS所致体重增加的主要遗传因素。     

三种基因SNP与BAVM易感及出血风险的相关性研究

目的探讨白细胞介素-17（IL-17A）、转化生长因子-β（TGF-β）及其受体（TGFRl32）的单核苷酸多态性（SNP）与脑动静脉畸形（BAVM）易感及出血风险的相关性。方法前瞻性收集BAVM患者外周血（n=53）,健康对照人群来自体检中心（n=120）。采用聚合酶链反应．限制性片段长度多态性（PCR—RFLP）法,检测IL-17A-197G／A,TGF-β1—509C／T及TGFR-β2—875A／G基因的SNP特征,并做关联分析探讨以上基因SNP与BAVM易感及出血风险的相关性。结果BAVM组与对照组比较,IL-17A-197G／A和TGF-β1．509C／T基因型及基因频率分布上的差异无统计学意义（P〉O．05）,TGFR-β2—875A／G基因型及基因频率分布差异有统计学意义（P〈0．05）;BAVM出血组IL-17A-197G／A的G／G基因型和TGFR-β2—875A／G的G基因频率明显高于未出血组（P〈O．05）。结论TGFR-β2．875A／G的G／G基因型可能是中国南方人群易感BAVM的危险因素．IL-17A-197G／A的G／G基因型可能与BAVM易破裂出血风险有关。     

汉族人群载脂蛋白A5基因多态性与2型糖尿病易感性及肾损害的关系

目的：探讨载脂蛋白A5(ApoA5)基因多态性与汉族人群2型糖尿病（T2DM）易感性及肾损害的关系。方法：选取汉族T2DM患者189例（T2DM组）,且根据随机配对原则选取189例健康者（对照组）,另根据T2DM组患者肾脏检查情况将其分为肾损害者与无肾损害者。采取聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测受检对象ApoA5-1131T>C和c. 553G>T基因型及统计等位基因频率,并采用logistic回归分析法分析ApoA5基因多态性与汉族T2DM易感性及肾损害的关系。结果：T2DM组ApoA5基因-1131T>C位点的TC基因型和c. 553G>T位点的GT基因型占比均高于对照组,T2DM组-1131T>C位点等位基因C和c. 553G>T位点等位基因T频率均高于对照组,差异均有统计学意义（P<0.05）;T2DM组并发肾损害者ApoA5基因-1131T>C位点的TC基因型和c. 553G>T位点的GT基因型占比均高于无肾损害者,-1131T>C位点等位基因C和c. 553G>T位点等位基因T频率均...     

奥氮平治疗导致的体重增加和血糖、血脂升高与5-HT2A受体基因多态性的关系

目的 :探讨奥氮平治疗患者的体重增加和血糖、血脂改变与 5 -羟色胺 2A受体 (HTR2A)基因多态性T10 2C和 -14 3 8G A的关系。方法 :采用PCR -RFLP技术分析 5 7名奥氮平治疗的精神分裂症患者的HTR2A基因多态性T10 2C和 -14 3 8G A的频率。测定患者治疗前后的体重、血脂和血糖指标 ,并计算体重指数 (BMI)。分析基因型与各指标变化的相关性。结果 :治疗后患者体重平均增加 ( 4 2± 4 2 )kg ,或增加基础体重的 ( 7 5± 7 6) % ,体重变化的范围为 ( -3～ 15 )kg ,平均BMI变化值为 ( 1 5± 1 5 )kg m2 ,空腹血糖平均增加 ( 0 3± 0 7)mmol L ,血清甘油三脂和胆固醇平均增加分别为 ( 0 73± 1 0 5 )mmol L和 ( 0 5 9±0 65 )mmol L。突变型纯合子 -14 3 8A A比野生型纯合子 -14 3 8G G的体重增加更显著。结论 :HTR2A受体与奥氮平导致的体重增加有关 ,基因型 -14 3 8A A可预示服用奥氮平后体重增加。     

中国延边地区朝鲜族、汉族人群PRODH和5-HTR2A基因多态性分布

目的 调查与精神疾病相关的PRODH和5-HTR2A基因在中国延边地区朝鲜族、汉族人群中的多态性分布状况,获得相应群体遗传学数据.方法 采用聚合酶链反应.限制性片段长度多态性技术,分析我国延边地区健康朝鲜族和汉族各96名的PRODH-1945和5-HTR2A基因-1438位点的基因型,计算基因型和等位基因频率.结果 延边地区朝鲜族、汉族PRODH-1945(T/C)基因型频率分别为MM型61.4%、Mm型34.4%、mm型4.2%和MM型55.2%、Mm型38.5%、mm型6.3%,等位基因频率分别为M 0.786、m 0.214和M 0.745、m 0.255;5-HTR2A基因-1438A/G,基因型频率分别为从型15.6%、AG型67.7%、GG型16.7%和从型11.5%、AG型65.6%、GG型22.9%,等位基因频率分别为A 0.495、G 0.505和A 0.443、111 0.557.结论 延边地区朝鲜族、汉族PRODH-1945和5-HTReA基因-1438基因座遗传多态性分布均符合Hardy-Weinberg平衡定律,两人群间分布差异无统计学意义,但显示很高的个人识别能力,所得数据资料可为中国延边地区朝鲜族、汉族人群的法医学个人识别、亲子鉴定及遗传学研究提供依据.     

5-羟色胺2A受体基因多态性与抗抑郁药物治疗反应的关联研究

目的:探讨中国汉族抑郁症患者5-羟色胺2A(5-HT2A)受体基因rs6311多态性与抗抑郁药物疗效的关系。方法:对符合美国《诊断与统计手册:精神障碍》第四版(DSM-IV)重性抑郁障碍诊断标准的121例抑郁症患者予以艾司西酞普兰或帕罗西汀治疗,疗程6周。采用高温连接酶检测反应法(LDR)检测5-HT2A受体基因rs6311位点,分析其与抗抑郁药物疗效的关系。结果:①5-HT2A受体基因rs6311位点T等位基因、TT基因型在无效组的频率显著高于有效组(P<0.05)。②携带rs6311位点TT基因型患者的汉密尔顿抑郁量表(HAMD)减分值和减分率均显著低于携带CC基因型患者(P<0.05)。结论:5-HT2A受体基因rs6311位点多态性可能与5-羟色胺再摄取抑制剂(SSRIs)疗效有关,T等位基因、TT基因型可能为疗效差的预测因子。     

5-HT 102T/C多态性与Tourette综合征的病例对照及核心家系关联分析

目的 研究5－羟色胺受体102T／C多态性是否与Tourette综合征（TS）相关联,方法对157个核心家系样本采用病例－对照关联分析,传递不平衡检验方法,聚合酶链反应及RFLP等技术,根据TS与强迫症（obsessive compulsive disorder,OCD)的同病现象,将TS划分亚组进行与5－羟色胺受体102T／C多态性的关联分析。结果 合并OCD的TS与该位点的基因型102C／C（X2＝8．38,P＝0．004）及等位基因102C／（X2＝4．84,P＝0．028）存在关联,进一步采用传递不平衡分析,发现合并（美国精神疾病诊断和统计手册IV》论断标准的OCD的TS与该位点存在关联或连锁不平衡（X2＝5．12,,P＝0．02）,而在TS总体样本及单纯TS样本中未发现与该位点的关联,结论 5－羟色胺受体102T／C多态性与中国人群合并OCD的TS存在关联,合并OCD的TS可能是TS中相对独立的一个亚型。     

高脂血症高密度脂蛋白亚类分布与Apo A-Ⅰ基因多态性的关系

目的：探讨高脂血症患者高密度脂蛋白（HDL）亚类分布与载脂蛋白A-Ⅰ(Apo A-Ⅰ)基因多态性的关系。 方法： 采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)和双向电泳-免疫印迹检测法，分析比较118例高脂血症患者和109例血脂正常者的Apo A-Ⅰ基因型、HDL各亚类分布及相对含量。 结果： Apo A-Ⅰ基因 －78 bp 位点和 ＋83 bp 位点的多态性分别以G/G和C/C基因型占优势，其中 －78 bp 位点高脂血症组A等位基因的频率显著高于对照组（P＜0.05）。高脂血症患者中，G/A突变受试者血清TG、Apo C-Ⅲ、pre β1-HDL及HDL3a水平显著高于，而HDL2a和HDL2b水平则显著低于G/G基因型者。 结论： 高脂血症Apo A-Ⅰ基因 －78 bp 位点G/A突变与HDL亚类分布相关，G/A突变受试者血清HDL亚类颗粒呈减小的趋势，提示HDL成熟代谢可能受阻。     

中山地区人群05L2基因C698T与妊娠期糖尿病相关性研究

目的研究促酰化蛋白（acylation-stimulating protein，ASP）的功能受体C5L2基因的SNP4位点C698T多态性与中山地区人群妊娠期糖尿病（GDM）的相关性。方法本研究采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对来自2012年2013年中山博爱医院共285例孕妇检测C5L2基因多态性，评估其与GDM的相关性。其中GDM组I74例，血糖正常103例设为对照组。GDM组和对照组基因型分布运用logistic回归模型分析。GDM组相关表型运用多重回归模型分析。结果C5L2基因C698T杂合子基因型在GDM组和对照组的分布频率分别为0.6％和1.9％，差异不具有统计学意义（校正X2=0.213，P=0.6〉0.05）。基因型TT在GDM组和对照组均未发现。结论在中山地区人群中，C5L2基因C698T基因多态性与GDM的发生可能不具有相关性。     

Lack of association of serotonin‐2A receptor gene polymorphism (T102C) with suicidal ideation and suicide

Serotonergic dysfunction has been implicated in the pathophysiology of affective disorders and suicidality. Especially the density of the 5‐HT2A receptor was claimed as being increased in suicidality, proposed as an adaptive upregulation due to reduced serotonergic transmission. Recent studies have shown an association of allele C of the 5‐HT2A‐T102C polymorphism with suicidal ideation in patients with major depression. The purpose of this study was to test whether this proposed marker indicates susceptibility not only to suicidal ideation in depressed patients but also to suicidality as a syndrome. We investigated the 5‐HT2A‐T102C polymorphism in 131 suicide victims with unknown underlying psychiatric diagnoses, 84 patients with major depression with or without suicidal ideation, and 125 healthy controls. We were unable to find any association of genotype or allele frequencies to major depression, suicidal ideation, or suicide as a syndrome. Thus, our results suggest that this polymorphism may not commonly be involved in the susceptibility to suicidality. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:831–835, 2000. © 2000 Wiley‐Liss, Inc.     

No evidence of an association between 5HT1B receptor gene polymorphism and suicide victims in a Japanese population

Serotonergic systems have been reported to mediate the control of aggression and/or impulsivity in humans and to be involved in suicidal behavior. Neurochemical studies showing serotonergic dysfunction in suicide appear to support the functional alteration of serotonergic systems due to gene polymorphisms. Knock-out mice of the 5HT1B receptor gene have been reported to result in increased aggression. We hypothesized that the 5HT1B receptor-mediated serotonergic dysfunction was implicated in suicide through disinhibition of aggression and/or impulsivity. To explore this hypothesis, we examined the association between suicide victims who completed suicide and the 5HT1B receptor gene G861C polymorphism. No significant differences in genotype distribution and allele frequencies were found between suicide victims and controls. Though there is the possibility of failing to detect small effects, these results show no evidence of an association between the 5HT1B receptor gene G861C polymorphism and suicide victims in a Japanese population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to suicide.     

Not Camera‐Marugo‐Cohen syndrome but diploid/triploid mixoploidy

Serotonergic systems have been reported to mediate the control of aggression and/or impulsivity in humans and to be involved in suicidal behavior. Neurochemical studies showing serotonergic dysfunction in suicide appear to support the functional alteration of serotonergic systems due to gene polymorphisms. Knock‐out mice of the 5HT1B receptor gene have been reported to result in increased aggression. We hypothesized that the 5HT1B receptor‐mediated serotonergic dysfunction was implicated in suicide through disinhibition of aggression and/or impulsivity. To explore this hypothesis, we examined the association between suicide victims who completed suicide and the 5HT1B receptor gene G861C polymorphism. No significant differences in genotype distribution and allele frequencies were found between suicide victims and controls. Though there is the possibility of failing to detect small effects, these results show no evidence of an association between the 5HT1B receptor gene G861C polymorphism and suicide victims in a Japanese population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to suicide. © 2001 Wiley‐Liss, Inc.     

Serotonin 5-HT(2A) receptor gene polymorphism, 5-HT(2A) receptor function and personality traits in healthy subjects: a negative study

BACKGROUND: Central serotonin-2A (5-HT(2A)) receptor dysfunction is regarded as an important factor in the etiology of affective disorders. The relations between some personality traits and the vulnerability of affective disorders are also implicated. Moreover, there are several reports which describe the association between 5-HT(2A) receptor gene polymorphisms and mental disorders. We therefore examined the relationship between personality traits, the 5-HT(2A) receptor function, and 5-HT(2A) receptor gene polymorphisms. METHODS: 5-HT-induced intraplatelet calcium (Ca) mobilization, 5-HT(2A) receptor gene polymorphisms (A-1438G, T102C, T516C, C1340T, C1354T), and Temperament and Character Inventory (TCI) scores were examined in 133 healthy subjects. RESULTS: Neither 5-HT-induced Ca mobilization nor 5-HT(2A) receptor gene polymorphisms (A-1438G, T102C) appear to be associated with seven personality dimensions including Harm Avoidance. There was no significant difference in the Ca response among the subjects with -1438A/A, A/G and G/G genotypes. Since the appearance of the other types of the 5-HT(2A) receptor gene polymorphisms (T516C, C1340T and C1354T) was quite rare in our sample, we were unable to examine the relationship between these polymorphisms, and the TCI score or the Ca response. LIMITATIONS: Our failure to find a significant association may reflect the false negative results due to the small sample size and low statistical power. Further studies in depressed patients may clarify the complicated relationship between personality traits and the vulnerability of affective disorders. CONCLUSIONS: Personality traits detected by TCI may not be directly related to the 5-HT(2A) receptor function or 5-HT(2A) receptor gene polymorphism which may be involved in the vulnerability of affective disorders.     

The 5-HT(2A) receptor gene 102T/C polymorphism is associated with suicidal behavior in depressed patients.

Several lines of evidence suggest that genetic factors constitute an important determinant of suicidal behavior. A significant association between the 5-HT(2A)-C allele and suicidality has recently been reported. The aim of this study was to investigate whether the proposed association between 5-HT(2A)-102T/C polymorphism and suicidality could be replicated in a larger and independent sample of Spanish patients with major depression. The 102T/C polymorphism of the 5-HT(2A) receptor gene was analyzed in 159 patients with major depression (DSM-IV criteria) and 164 unrelated and healthy controls using a case control design. All individuals were subjects of Spanish origin. Significant differences in allele (chi-square = 4.13, df = 1, P = 0.04) and genotype (chi-square = 6.19, df = 2, P = 0.04) distributions were found between non-suicide attempters and suicide attempters. Moreover, those patients carrying 5-HT(2A)-C allele had more than five times the risk for attempting suicide than noncarriers (OR = 5.50, 95% CI = 1.18-35.20, P = 0.01). Our results replicate the proposed association between 5HT(2A)-C allele and suicidality in major depression. Moreover, no overall associations are detected when patients with major depression and controls are compared for 102T/C frequencies, suggesting that the increased risk for suicidality conferred by 5-HT(2A)-C allele is primarily associated with suicidal behavior and not with the diagnosis of major depression itself.     

The 5‐HT2A receptor gene 102T/C polymorphism is associated with suicidal behavior in depressed patients

Several lines of evidence suggest that genetic factors constitute an important determinant of suicidal behavior. A significant association between the 5‐HT_2A‐C allele and suicidality has recently been reported. The aim of this study was to investigate whether the proposed association between 5‐HT_2A‐102T/C polymorphism and suicidality could be replicated in a larger and independent sample of Spanish patients with major depression. The 102T/C polymorphism of the 5‐HT_2A receptor gene was analyzed in 159 patients with major depression (DSM‐IV criteria) and 164 unrelated and healthy controls using a case control design. All individuals were subjects of Spanish origin. Significant differences in allele (chi‐square = 4.13, df = 1, P = 0.04) and genotype (chi‐square = 6.19, df = 2, P = 0.04) distributions were found between non–suicide attempters and suicide attempters. Moreover, those patients carrying 5‐HT_2A‐C allele had more than five times the risk for attempting suicide than noncarriers (OR = 5.50, 95% CI = 1.18–35.20, P = 0.01). Our results replicate the proposed association between 5HT_2A‐C allele and suicidality in major depression. Moreover, no overall associations are detected when patients with major depression and controls are compared for 102T/C frequencies, suggesting that the increased risk for suicidality conferred by 5‐HT_2A‐C allele is primarily associated with suicidal behavior and not with the diagnosis of major depression itself. © 2001 Wiley‐Liss, Inc.     

Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects

Five candidate genes, the receptors DRD2, DRD3, HTR2A and GABA(A)gamma2, and the serotonin transporter (5-HTT) were analyzed for association with heroin abuse. We examined three polymorphisms (promoter - 141DeltaC, Ser311Cys, and TaqI) in the DRD2 gene, one polymorphism (Ser9Gly) in the DRD3 gene, two polymorphisms (promoter - 1438G/A and T102C) in the HTR2A gene, two polymorphisms (VNTR and Del/Ins) in 5-HTT gene, and one polymorphism (G3145A) in GABA(A)gamma2 gene in 121 Chinese heroin addicts and 194 controls. None of the polymorphisms differed significantly for allele, genotype, or haplotype frequencies, except for the DRD2 promoter polymorphism - 141DeltaC (genotype-wise and allele-wise, P = 0.05, uncorrected). An additional 344 subjects with heroin abuse and 104 controls were investigated for the - 141DeltaC polymorphism. In the second sample, there were no significant difference of genotype or allele frequencies between subjects with heroin abuse and normal controls. When we divided the sample by route of administration into nasal inhalers and IM or IV injectors, however, it produced a significant difference between inhalers of heroin and controls (genotype-wise, P = 0.006, allele-wise, P = 0.016) but not for injectors of heroin (genotype-wise, P = 0.81, allele-wise, P = 0.69). We also found that LD between all polymorphisms we examined in the gene was weak, possibly explaining why we see association of this polymorphism with heroin abuse but not with other markers in the gene. Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.     

Allelic association analysis of the dopamine D2, D3, 5‐HT2A,and GABAAγ2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects

Five candidate genes, the receptors DRD2, DRD3, HTR2A and GABA_Aγ2, and the serotonin transporter (5‐HTT) were analyzed for association with heroin abuse. We examined three polymorphisms (promoter ? 141ΔC, Ser311Cys, and TaqI) in the DRD2 gene, one polymorphism (Ser9Gly) in the DRD3 gene, two polymorphisms (promoter ? 1438G/A and T102C) in the HTR2A gene, two polymorphisms (VNTR and Del/Ins) in 5‐HTT gene, and one polymorphism (G3145A) in GABA_Aγ2 gene in 121 Chinese heroin addicts and 194 controls. None of the polymorphisms differed significantly for allele, genotype, or haplotype frequencies, except for the DRD2 promoter polymorphism ? 141ΔC (genotype‐wise and allele‐wise, P = 0.05, uncorrected). An additional 344 subjects with heroin abuse and 104 controls were investigated for the ? 141ΔC polymorphism. In the second sample, there were no significant difference of genotype or allele frequencies between subjects with heroin abuse and normal controls. When we divided the sample by route of administration into nasal inhalers and IM or IV injectors, however, it produced a significant difference between inhalers of heroin and controls (genotype‐wise, P = 0.006, allele‐wise, P = 0.016) but not for injectors of heroin (genotype‐wise, P = 0.81, allele‐wise, P = 0.69). We also found that LD between all polymorphisms we examined in the gene was weak, possibly explaining why we see association of this polymorphism with heroin abuse but not with other markers in the gene. Overall our results indicates that the HTR2A, 5‐HTT, DRD3 and GABA_Aγ2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter ? 141ΔC polymorphism. © 2002 Wiley‐Liss, Inc.     

Association between 5-hydroxytryptamine 2A receptor gene polymorphism and postoperative analgesic requirements after major abdominal surgery

Although the serotonin (5-hydroxytryptamine (5-HT)) 2A receptor has been reported to be associated with pain, no relationship has been found between single nucleotide polymorphisms in the 5-HT2A receptor gene and analgesic requirements. To clarify the mechanism of individual differences in analgesic requirements, we investigated the relationship between the 5-HT2A 102T/C gene polymorphism and analgesic requirements in 135 patients who underwent major open abdominal surgery and were managed with continuous epidural analgesia with opioids after surgery. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. We found that the 102T/C polymorphism had significant main effects with regard to analgesic requirements. In addition, significant interaction effects were found between the 102T/C polymorphism and sex in terms of analgesic requirements. Among female subjects, patients with the T/T genotype of the 102T/C polymorphism had more analgesic requirements than those with the other genotypes. This finding suggests that the linkage disequilibrium block, which includes the 102T/C polymorphism of the 5-HT2A receptor gene, is involved in individual differences in analgesic requirements in women.     

FKBP6基因278C/A单核苷酸多态性与原发无精症相关研究

目的对FKBP6基因第3、4外显子进行突变和多态性筛查,研究第3外显子278C/A位点及第2内含子C/T位点(rs7797242)在无精症患者和正常男性中的多态性,初步探讨与原发无精症的相关性。方法采用变性高效液相色谱和聚合酶链反应-限制性片段长度多态性方法,对第3、4外显子进行突变和多态性筛查,对177例无精症患者和231名正常男性的278C/A和C/T(rs7797242)多态性进行基因分型。结果278C和278A等位基因频率符合Hardy-Weinberg平衡。无精症患者278A显著低于正常对照,差异有统计学意义(P<0.05)。C/T多态性在两组中均未检出,第3、4外显子未筛查到新的变异。结论278A等位基因可能与原发无精症相关。C/T(rs7797242)及370G/A,430G/C,467T/C,468G/A在中国人群中非常罕见。