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OPHN1基因编码RhoGTP酶激活蛋白(RhoGAP), 是X连锁的与非特异性精神发育迟滞有关的基因之一。采用PCR-RFLP方法, 对234名陕西秦巴山区正常的汉族儿童以及精神发育迟滞(Mental retardation, MR)患者的OPHN1基因5′非翻译区中的单核苷酸多态位点(Single nucleotide polymorphism, SNP) rs492933的等位基因频率和基因型频率以及是否与非特异精神发育迟滞相关进行分析。结果发现: 这一位点基因频率C为0.826, T为0.174; MR组与对照组之间基因型频率和基因频率没有显著性差异, 边缘组与对照组之间基因型频率和基因频率也没有显著性差异。证明OPHN1基因内SNP rs492933的多态性与秦巴山区汉族儿童精神发育迟滞不存在相关性。 相似文献
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用来自中国中西部秦巴山区的非特异性精神发育迟滞患者及正常对照人群为样本, 通过研究分别位于GDI1基因第7外显子剪接区和第8外显子上的rs2276462和rs11549300两个功能SNP位点的多态性, 探索GDI1基因的多态现象与当地儿童的精神发育迟滞及其智力水平的相关性。在样本人群中仅观察到rs11549300位点的多态现象, 而rs2276462位点在秦巴山区儿童中十分保守。病例-对照分析结果显示, rs11549300位点多态性与秦巴山区儿童的非特异性精神发育迟滞无显著相关性(P>0.05), 但是其多态现象可能与当地儿童的智力水平有一定的相关性(P=0.03), 但是这一结论还需要在更大样本中, 通过选择更多的遗传标记来进一步确证。 相似文献
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目的:研究儿茶酚胺氧位甲基转移酶(COMT)的不同基因型及等位基因频率在云南汉族酒精依赖综合征患者组和健康对照组的分布差异。方法:应用聚合酶链式反应.限制性片段长度多态性分析法,对COMT基因的rs2075507、rs737865、rs4680、rsl65599四个基因位点进行特异性扩增,限制性内切酶酶切分型。结果:上述4个候选基因中,COMT基因rs737865位点C/C基因型频率在健康对照组较酒依赖组高,其基因型分布在两组中有差异,且具有统计学意义(P〈0.05)。其余3个位点统计学分析均无显著性差异(P〉0.05)。单倍型分析:上述四个候选基因构建出12种主要单倍型(每种单倍型在对照组和酒依赖组中的频率至少有一个大于1%),单倍型A—C—A—A有可能是云南汉族酒精依赖发生的一种危险因子(OR:2.865,P=0.003347)。连锁不平衡分析显示:云南汉族人群中,COMT基因的rs2075507和rs737865之间存在着强连锁(D〉0.8)。结论:在云南汉族人群中,COMT基因rs2075507、rs4680和rs165599位点与酒依赖无关联性,rs737865C/C基因型可能是酒精依赖的保护因子,可能降低嗜酒的发生率。单倍型A-C-A-A有可能是云南汉族酒精依赖发生的一种危险因子。云南汉族人群中,COMT基因的rs2075507和rs737865之间存在着强连锁。 相似文献
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目的:研究儿茶酚胺氧位甲基转移酶(COMT)的不同基因型及等位基因频率在云南汉族酒精依赖综合征患者组和健康对照组的分布差异。方法:应用聚合酶链式反应-限制性片段长度多态性分析法,对COMT基因的rs2075507、rs737865、rs4680、rs165599四个基因位点进行特异性扩增,限制性内切酶酶切分型。结果:上述4个候选基因中,COMT基因rs737865位点C/C基因型频率在健康对照组较酒依赖组高,其基因型分布在两组中有差异,且具有统计学意义(P<0.05)其余3个位点统计学分析均无显著性差异(P>0.05)。单倍型分析:上述四个候选基因构建出12种主要单倍型(每种单倍型在对照组和酒依赖组中的频率至少有一个大于1%),单倍型A-C-A-A有可能是云南汉族酒精依赖发生的一种危险因子(OR:2.865,P=0.003347)连锁不平衡分析显示:云南汉族人群中,COMT基因的rs2075507和rs737865之间存在着强连锁(D>0.8)结论:在云南汉族人群中,COMT基因rs2075507、rs4680和rs165599位点与酒依赖无关联性,rs737865C/C基因型可能是酒精依赖的保护因子,可能降低嗜酒的发生率。单倍型A-C-A-A有可能是云南汉族酒精依赖发生的一种危险因子云南汉族人群中,COMT基因的rs2075507和rs737865之间存在着强连锁。 相似文献
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Catechol-O-methyl transferase (COMT) plays an important role in the metabolism of neurotransmitters. Two alleles of the COMT gene as a result of a G/A transition in the exon 4 can lead to different COMT enzymatic activities. Much genetic research has revealed that this COMT functional polymorphism was related to human psychiatric disorders. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods were used to discern the relationships among the functional polymorphism of COMT, mental retardation (MR), and general cognitive ability of children. The results of the case-control analysis showed that there was no association between the frequencies of genotypes of COMT and MR (x2=0.776, P>0.05) or between the frequency of COMT alleles and MR (x2=0.335, P>0.05). COMT polymorphism was found in children whose intelligence quotient (IQ) was above 55. In normal children (IQ≥85), the frequencies of high-activity allele COMTH and the homozygote genotype COMTHH were 60.98% and 79.28%, respectively. Both were higher than those of the borderline group (46.67% and 70.67%, 0.10 > P>0.05). Therefore, the result of this study suggests that this functional polymorphism is not an important risk factor for MR, but the COMTHH genotype may have a positive effect on cognitive performance in normal children in the Qinba area. 相似文献
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采用PCR扩增技术和聚丙烯酰胺凝胶电泳技术, 并结合测序, 对秦巴山区随机抽样儿童及不同智力水平儿童的FRAXE脆性位点CGG重复序列进行检测。并把所得的CGG重复数与智测成绩(用韦氏儿童智力量表(C-WISC)进行智力测量)做关联分析。结果表明, FRAXE脆性位点CGG重复的等位基因分布范围在不同地域人群中有所差异, 同一地域人群中等位基因频率分布基本一致; 随机抽样儿童的CGG重复多态性与智力没有相关性(r=0.083, P>0.05), 男性和女性的CGG重复多态性分别与儿童智力也无相关性(r男=0.225, r女=-0.041, P>0.05); 在智力低下(MR)、边缘和正常儿童中, CGG重复数值之间也没有显著性差异(F=0.195, P>0.05)。因而认为, 秦巴山区儿童FRAXE脆性位点CGG的正常重复多态性(重复数为8-30)与其智力成绩亦无相关性。 相似文献
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Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population 下载免费PDF全文
Jufen Liu Linlin Wang Yunting Fu Zhiwen Li Yali Zhang Le Zhang Lei Jin Rongwei Ye Aiguo Ren 《Birth defects research. Part A, Clinical and molecular teratology》2014,100(1):22-29
Maternal tea consumption was reported to increase the risk of fetal neural tube defects (NTDs). Catechol‐O‐methyltransferase (COMT) may be involved in the metabolism of polyphenolic methylation of tea, thus influence the risk of fetal NTDs. Methods: A total of 576 fetuses or newborns with NTDs and 594 healthy newborns were included in the case–control study. Information on maternal tea consumption, sociodemographic characteristics, reproductive history, and related behavior was collected through face‐to‐face interviews. Maternal blood samples were collected to examine polymorphisms in COMT, and the possible interaction of COMT and tea consumption was analyzed. RESULTS: After controlling for potential confounders, homozygotes of rs737865 showed an elevated risk for total NTDs (odds ratio [OR] = 2.04, 95% confidence interval [CI], 1.24–3.35) and for the anencephaly subtype (OR = 1.99, 95% CI, 1.17–3.39). The CC genotype of rs4633 was positively associated with the overall risk of NTDs (OR = 3.66, 95% CI, 1.05–12.83). Heterozygotes for rs4680 were associated with a decreased risk of spina bifida (OR = 0.71, 95% CI, 0.51–0.98). The COMT rs4680 A allele was negatively related with the risk of spina bifida, with adjusted OR = 0.64 (95% CI, 0.45–0.89). An interaction between tea consumption (1 to 2 cups/day) and the rs4680AA/AG genotype was found in the spina bifida subtype (Pinteraction = .08). Conclusion: Several COMT variants were associated with elevated risk of NTDs in a Chinese population. Maternal tea consumption may be associated with an increased risk for fetal NTDs in genetically susceptible subgroups. Birth Defects Research (Part A) 100:22–29, 2014. © 2013 Wiley Periodicals, Inc. 相似文献
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牛FSHR基因第10外显子单核苷酸多态性及其与双胎性状的关系 总被引:13,自引:0,他引:13
以秦川牛和荷斯坦奶牛的双胎母牛和单胎母牛为实验材料 ,以牛的FSHR基因的第 10个外显子作为标记牛双胎性状的候选基因 ,用SNP法进行了多态检测 .结果发现 ,在秦川牛的双胎母牛中突变率 6 0 % (6 10 ) ,而在单胎母牛中突变率为 2 0 % (2 10 ) ;在荷斯坦奶牛中 ,双胎母牛突变率为31 2 5 % (5 16 ) ,单胎母牛突变率为 6 6 7% (1 15 ) ;由此可见双胎牛和单胎牛二者之间FSHR基因的第 10个外显子的突变率差异明显 .这表明 ,选择FSHR基因的第 10个外显子有可能作为双胎性状的候选基因 .序列分析发现 ,在FSHR基因的第 15 0 6位碱基发生了突变 (T→C) ,但氨基酸没有发生变化 . 相似文献
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Rachidi Mohammed; Lopes Carmela; Costantine Maher; Delabar Jean-Maurice 《DNA research》2005,12(3):203-210
Availability of the human genome sequence promises importantprogress in the understanding of human pathologies, particularlyfor multifactorial diseases. Among these, Down syndrome (DS)is the most frequent genetic cause of mental retardation. Acritical region of chromosome 21, the Down syndrome ChromosomalRegion-1 (DCR-1), is responsible for many features of the DSphenotype including mental retardation. We studied DCR-1 C21orf5as a new candidate gene for DS considering its restricted expressionin key brain regions altered in DS patients and involved inlearning and memory processes. To elucidate C21orf5 molecularfunction, we performed a comparative study of protein sequencesin several species and showed that C21orf5 represents a newmember of the Dopey leucine zipper-like family. The C21orf5C-termini contains two highly conserved leucine-like zipperdomains in invertebrate and vertebrate species. Evolution analysisindicated a common ancestral origin of these protein sequencesalso suggesting a conserved function of this gene throughoutphylogenesis. Mutations of the known C21orf5 homologous genesAspergillus nidulans DopA, Saccharomyces cerevisiae Dop1 andCaenorhabditis elegans pad1, determine morphological abnormalities.We studied transgenic mice carrying the human C21orf5 gene andwe showed that this gene is overexpressed in brain regions byin situ hybridization and by real-time RTPCR experiments.Interestingly, we also showed that these transgenic mice havean increased density of cortical cells overexpressing C21orf5.Similarly, DS patients have an altered lamination pattern intheir cortex. Considering together our and previous findings,we suggest that the human dopey family member, C21orf5, couldplay a role in brain morphogenesis and, when overexpressed,it could participate in neurological features and mental retardationobserved in DS patients. 相似文献
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Wang Juan Ni Hong Chen Li Chen Chengbin Song Wenqin 《Frontiers of Biology in China》2007,2(3):272-275
Cancer-related genes harbored in the loss regions containing a high frequency of hepatocellular carcinoma (HCC) were selected.
Related information was gathered and the coding single nucleotide polymorphism (cSNP) sequences were obtained from the single
nucleotide polymorphism (SNP) database. The appropriate primers and oligonucleotide probes were then designed in accordance
with the SNP sites, and subsequently, the gene chips for detecting SNPs were constructed. Genomic DNA was extracted from blood
samples of healthy controls and from patients with HBV infection. The sequences, including the SNPs, were amplified via polymerase
chain reaction (PCR) and labeled using digoxigenin deoxyuridine tri-phosphate (Dig-dUTP). The labeled products were then hybridized
with the SNP chips. Results confirmed that the differences in allele frequencies of three SNPs EGFL3 (rs947345), Caspase9
(rs2308950), and E2F2 (rs3218171) were distinct between HBV-infected patients and controls, suggesting that these SNPs ocuring
in high frequency in HBV-infected individuals may be associated with susceptibility to HCC.
Translated from Acta Scientiarum Naturalium Universitatis Nankaiensis, 2006, 39(3): 1–5 [译自: 南开大学学报(自然科学版)] 相似文献
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一个新硝基还原酶基因NOR1编码区单核苷酸多态及与鼻咽癌的关联分析 总被引:6,自引:5,他引:6
NOR1基因是中南大学湘雅医学院肿瘤研究所克隆的一个鼻咽癌表达下调新基因,生物信息学预测NOR1基因含有硝基还原酶结构域,该基因可能参与亚硝胺类化学致癌物在体内的代谢过程,从而与鼻咽癌的发生密切相关.通过采用病例-对照的研究方法,利用测序技术对144名鼻咽癌患者和匹配的144名正常人NOR1基因编码区单核苷酸多态(coding region single nucleotide polymorphisms, cSNPs)进行基因分型,关联分析结果显示所检测到的两个cSNPs之间存在连锁不平衡,且均与鼻咽癌发病相关,两个cSNPs及它们所组成的单倍型相对危险度分别为1.36、1.64和1.37.两个cSNPs的多态性改变均使NOR1基因编码蛋白一级结构发生了变化,这种改变可能影响NOR1基因编码蛋白的结构和功能.研究进一步支持了NOR1基因与鼻咽癌的发生发展可能存在密切的关系. 相似文献
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Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia-Susceptibility Locus at 5q21-23.1 下载免费PDF全文
Robin L. Bennett Maria Karayiorgou Christina A. Sobin Tom H. Norwood Mark A. Kay 《American journal of human genetics》1997,61(6):1450-1454
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Application and functional study of dwarf and semi-dwarf genes are of great importance to both crop breeding and molecular biology. A new semi-dwarf gene, sd-t(t), non-allelic to sd-1, had been identified in an indica rice variety, Aitaiyin 2. In this study the gene was genetically mapped by using an F2 population, which consisted of 474 individuals developed from a cross between Aitaiyin 2 and B30. The sd-t(t) gene was located between the RFLP markers R514 and R1408B with a distance of 1.1 cM to R514, and 4.5 cM to R1408B on chromosome 4. A physical contig covering the sd-t(t) mapping region was further constructed by screening a BAC library with R514 and R1408B as probes, and the physical distance between R514 and R1408B was estimated at approximately 147 kb. This result will facilitate map-based cloning of the sd-t(t) gene. 相似文献