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单核苷酸多态

单核苷酸多态的相关文献在2000年到2022年内共计265篇,主要集中在肿瘤学、内科学、畜牧、动物医学、狩猎、蚕、蜂 等领域,其中期刊论文233篇、会议论文15篇、专利文献122302篇;相关期刊151种,包括遗传、国际遗传学杂志、中华医学遗传学杂志等; 相关会议12种,包括第八届中国肿瘤学术大会暨第十三届海峡两岸肿瘤学术会议、第十三次全国畜禽遗传标记研讨会、第十六次全国动物遗传育种学术讨论会暨纪念吴仲贤先生诞辰100周年大会等;单核苷酸多态的相关文献由967位作者贡献,包括金玮、孙开来、刘艳等。

单核苷酸多态—发文量

期刊论文>

论文:233 占比:0.19%

会议论文>

论文:15 占比:0.01%

专利文献>

论文:122302 占比:99.80%

总计:122550篇

单核苷酸多态—发文趋势图

单核苷酸多态

-研究学者

  • 金玮
  • 孙开来
  • 刘艳
  • 李宁
  • 邱广蓉
  • 黄薇
  • 宫立国
  • 张雪梅
  • 李辉
  • 熊兴东
  • 期刊论文
  • 会议论文
  • 专利文献

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    • 黄如纯; 皮回春; 高玉山; 吴曼祯; 吴丽萍
    • 摘要: 目的 探讨染色体核型分析及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术对于高危因素孕妇产前诊断的价值.方法 选取2018年1月至2019年12月于本院产前诊断中心就诊的高危孕妇1660例,于孕中期行羊水穿刺,对羊水细胞同时行染色体核型分析及SNP-array检测.比较高危因素(高龄、超声异常、不良孕史、夫妇染色体异常、血清学筛查高风险、无创产前基因检测)两种方法的检出情况.结果 所有标本均成功检测.染色体核型分析发现致病性核型135例,检出率为8.13%(135/1660),SNP-array致病性拷贝数变异(copy number variations,CNVs)检出率为9.04%(150/1660),两种方法异常染色体检出率差异有统计学意义(x2=9.33,P<0.01).比较合并两项及以上高危因素和单项高危因素的致病性CNVs检出率差异有统计学意义(P<0.05).当合并两项及以上高危因素时SNP-array致病性CNVs高于传统染色体核型分析的异常核型检出率(x2=5.14,P<0.05).结论 SNP-array可增加高危孕妇染色体致病性CNVs检出率,结合染色体核型分析可互补检出平衡易位及低比例嵌合体等,以减少遗传病患儿的漏诊,降低出生缺陷.
    • 陆信蓓; 周从华; 张付全; 张婷; 蒋跃明
    • 摘要: SNP数据作为重要的基因变异数据,是目前生物信息学领域中重要的课题之一,但由于SNP数据中存在较多的冗余和噪声,因此对SNP数据进行特征提取尤为重要.论文针对SNP数据少样本、高维度的问题和SNP位点之间具有强相关性的特点,在K-Means聚类中引入互信息,提出了一种改进的聚类算法K-MIM,将其应用于SNP选择中.K-MIM算法解决了传统的K-Means算法不能挖掘出SNP位点之间内在关系的问题,并在医院提供的临床数据实验结果表明,K-MIM/蚁群算法所筛选出的信息SNP子集,较K-Means/蚁群、MCMR、ReliefF等算法所筛选出的信息SNP子集,具有更高的非信息SNP子集重构度和更好的分类效果.
    • 曹莉敏; 周从华
    • 摘要: 单核苷酸多态性(Single Nucleotide Polymorphism,SNP)数据是一种关于遗传病理学研究的重要数据,其高维少样本,存在大量噪声和冗余,并且SNP位点之间存在连锁不平衡性,因此需要对SNP数据进行降维.提出一种改进的K-Center算法——K-MSU算法.使用K-Center进行数据降维,在K-Center算法的距离度量中引入对称不确定性,解决SNP数据之间的连锁不平衡性;针对K-Center算法的随机选择初始聚类中心的方法容易对聚类结果产生较大的影响,使用基于信息增益的密度方法去选择初始聚类中心.在医院提供的临床实验数据的实验结果表明,K-MSU算法在SNP选择中具有更高的分类准确率和较好的效果.
    • 莫晗; 杨祎; 张学龙
    • 摘要: 微小RNA(microRNA,miRNA)是基因表达的关键调节因子.而长链非编码RNA(long non-coding RNA,lncRNA)作为内源竞争RNA(competing endogenous RNA,ceRNA),与mRNA竞争结合miRNA.miRNA靶标种子区域或者lncRNA上与miRNA结合区域的单核苷酸多态(single nucleotide polymorphism,SNP)的存在,可能影响miRNA与mRNA以及lncRNA与miRNA的结合,从而影响靶基因的表达水平和肿瘤的形成.随着lncRNA和miRNA相关SNPs被不断发现,后续的功能分析及其与人类疾病的关系等研究内容不断进展,对大量数据进行整合和分析并对相关SNPs进行分类就显得尤为重要,由此诞生了众多的SNPs数据库.本文将从基本注释信息内容,相关功能分析和简单应用等方面回顾常用的lncRNA和miRNA相关的SNPs数据库,为研究人员提供参考.
    • 解魏卫; 赵靖平; 李乐华
    • 摘要: Objective: To explore the relationship between ABCB1 gene polymorphisms and major depressive disorder (MDD) . Method: With the case-control design, the genotype frequency and allele frequency in the 6 points including rs1045642, rs2032583, rs2032582, rs2235040, rs1128503, rs2235015 of ABCB1 gene were detected by ligase detection reaction (LDR) in 292 MDD patients (MDD group) and 208 gender, aged matched normal controls (NC group) . The ABCB1 gene polymorphisms and major depressive disorder were in the ratio of age and gender. The relationship between ABCB1 gene polymorphisms and MDD was analyzed.Results: The genotype frequency in the 6 points of ABCB1 gene between the two groups had no significant difference. The T allele frequencies of rs2032582 and rs1128503 in MDD group were significantly higher than those in the NC group (all P < 0. 05) . The frequency of TG haplotypes constituted by rs1045642 and rs2032582 in the NC group was significantly higher than that in the MDD group (χ2= 9. 72, P < 0. 05) . Conclusion:The polymorphism of the points rs2032582 and rs1128503 of ABCB1 gene and TG haplotypes constituted by rs1045642 and rs2032582 may be related with the MDD.%目的:探讨ABCB1基因多态性的6个单核苷酸位点多态性与重性抑郁障碍 (MDD) 的关系.方法:采用病例-对照方法, 用高温连接酶检测反应法 (LDR) 分析292例MDD患者 (MDD组) 及与其性别、年龄相匹配的208名健康对照者 (NC组) ABCB1基因6个多态性位点 (rs1045642、rs2032583、rs2032582、rs2235040、rs1128503、rs2235015) 基因型及等位基因频率, 分析与MDD发病的关系.结果:两组间6个多态性位点的基因型频率差异无统计学意义; MDD组rs2032582及rs1128503位点T等位基因频率显著高于NC组 (P均<0. 05) ; rs1045642-rs2032582构成单体型TG频率NC组显著高于MDD组 (χ2=9. 72, P <0. 05) .结论:ABCB1基因的多态性位点rs2032582、rs1128503以及rs2032582-rs1045642的TG单体型可能与MDD发病相关.
    • 倪梦霞; 孟庆霞; 李红; 偶健; 张癸荣; 王玮; 郑爱燕; 丁洁; 邢丽贤; 刘敏娟; 毛君; 蒲艳; 邹琴燕
    • 摘要: 目的 探讨二代测序技术对脊髓性肌萎缩症(SMA)家系行胚胎植入前遗传学诊断(PGD)的应用价值和优势.方法 选取1对于苏州市立医院生殖与遗传中心就诊的SMA基因携带者夫妇,经家系调查后,抽取家系成员外周血,采用Real-time PCR法进行分析,明确基因突变位点.针对突变位点涉及基因及基因的上下游区域内选择高密度紧密连锁的单核苷酸多态(SNP)作为遗传标记.二代测序(NGS)后,选择若干有效位点进行单体型分析.最后使用单体型连锁分析技术进行单基因PGD. 结果 此对夫妇的SMN1基因exon7均为单拷贝,而先证者为SMN1基因exon7纯合缺失.通过单体型连锁分析之后进行单基因病PGD周期,形成4枚囊胚,NGS PGD检测结果为未携带突变的整倍体囊胚、单拷贝携带的整倍体囊胚、单拷贝携带但为非整倍体囊胚和致病的整倍体囊胚各1枚.将未携带突变的整倍体囊胚行冻融胚胎移植后获得临床妊娠,产前诊断结果显示未见异常,足月剖宫产分娩一正常男婴,体重3 150 g,健康状况良好. 结论 采用NGS对SMA家系行PGD可以阻断此单基因病在该家系中的再发风险,还可以避免选择非整倍体胚胎而导致的流产问题.
    • 仵红娇; 高慧; 谢俞宁; 张艳艳; 杨振邦; 张雪梅
    • 摘要: 目的 探讨补体因子CD55启动子遗传变异与食管癌发病风险的相关性.方法 以2008年4月至2012年12月在华北理工大学附属唐山市工人医院和唐山市人民医院就诊的700例食管癌患者作为病例组,健康对照来自同期健康体检个体,以无肿瘤病史和体征者作为对照组,共700名.采用PCR-限制性片段长度多态性(PCR-RFLP)方法,对700例食管癌患者和700名正常对照者进行CD55 rs2564978基因分型.采用非条件logistic回归模型比较CD55 rs2564978变异与食管癌发病风险的关系.结果 病例组和对照组的年龄分别为(60.04±9.19)、(59.21±9.98)岁.与CD55 rs2564978 TT基因型携带者相比,CC基因型携带者患食管癌OR(95%CI)为1.94(1.42~2.66);不同性别分析显示,携带CC基因型的男、女性与食管癌发病的OR(95%CI)分别为1.92(1.37~2.70)、2.34(1.04~5.27);不同年龄组中,≤60、>60岁CC基因型携带者与食管癌发病的OR(95%CI)分别为1.79(1.19~2.68)、2.32(1.41~3.83).同时,在调整了其他变量后,饮酒、不饮酒的CC基因型携带者与食管癌发病的OR(95%CI)分别为1.93(1.03~3.63)、1.95(1.36~2.80).吸烟状况分层分析显示,与CD55 rs2564978 TT基因型相比,CC基因型中的非吸烟人群、累计吸烟量≤30包/年、累计吸烟量>30包/年的人群食管癌发病的OR(95%CI)分别为1.79(1.13~2.83)、1.86(1.31~2.64)和2.67(1.28~5.57).吸烟和CD55 rs2564978通过交互作用影响食管癌发病风险(P=0.001).结论 CD55启动子区rs2564978遗传变异可能与食管癌发病相关.
    • 董飚; 王健; 秦豪荣; 孙国波; 李小芬; 张蕾
    • 摘要: 为了解A-FABP基因单核苷酸多态在番鸭群体中的分布情况,以及单核苷酸多态与生产性能的关联性,采用PCR-SSCP技术对番鸭A-FABP基因进行多态性研究,分析该基因与体重、屠宰性能、常规肉品质的相关性.结果表明:番鸭A-FABP基因上发现A-C突变,位于第2内含子第201处碱基,形成了AA、AB、BB 3种基因型,A等位基因频率为0.8241,B等位基因频率为0.175 9,群体纯合度为0.710 0,多态性信息含量为0.247 9.除第2、4周龄外,AA型公鸭早期体重显著高于AB型公鸭,母鸭不同基因型之间无显著差异.公鸭的宰前活重、屠体重、半净膛重、全净膛重、胸肌重、腹脂重、腹脂率指标在不同基因型之间存在显著性差异,AB型均小于AA型.母鸭只有腹脂重、腹脂率在不同基因型间存在显著性差异,AB型低于AA型.番鸭A-FABP基因第2内含子A201C单核苷酸突变对腹脂沉积、公鸭体重有显著影响.%The distribution of single nucleotides in the A-FABP gene of Muscovy ducks was believed to closely related to the meat productivity of the duck.This study applied PCR-SSCP to unveil the single nucleotide polymorphisms (SNPs) of the ducks that were genetically varied.Then,these SNPs were corrected to the body weight,slaughtering property and meat quality of the ducks.The results showed that the SNP of A-C was at the 201st site in the intron 2 of the A-FABP gene,and the mutation formed the genotypes,AA,AB and BB.The allele frequencies of A and B were determined to be 0.824 1 and 0.175 9,respectively.The homozygosity was 0.710 0 in the duck population;and,the polymorphic information content (PIC),0.247 9.Other than the 2-and 4-week-old ducks,the individual weight of AA males was significantly higher than that of AB males,and no significant difference on the female ducks.The weights of live bird,slaughtered carcass,dressed carcass,half-eviscerated carcass,eviscerated carcass,breast meat,and abdominal fat,as well as the percentage of abdominal fat of a male duck differed significantly depending upon the genotypes,as those of the AB genotype being lower than those of the AA genotype.For the female ducks,only the weight and percentage of abdominal fat were significantly lower in the AB than AA genotype.The SNP of A201C in the intron 2 of the A-FABP gene played an important role on the abdominal fat deposit and body weight of a male Muscovy duck.
    • 李伟; 姜永冬; 庞达
    • 摘要: Objective The aim of this study was to investigate the association between single nucleotide polymorphisms(SNPs)in FGFR3 gene and the risk of breast cancer.Methods The frequency of SNP genotypes rs2234909 and rs3135848 of FGFR3 gene in premenopausal breast cancer patients and premenopausal normal fe-males were detected by multiple clonal extension SNP typing technique.The SNP genotypes were compared with different SNP genotypes and the risk of premenopausal breast cancer.Results There was no difference in the genotype frequencies of SNP rs 2234909 and rs3135848 between breast cancer and control groups(P>0.05).Lo-gistic regression analysis showed that there was no correlation between TC and TC +CC genotype and risk of breast cancer(OR=1.035,95% CI:0.680~1.575,P=0.874;OR=0.985,95% CI:0.638~1.521,P=0. 945).For the rs3135848 locus,the genotypes of TC,CC and TC+CC were not associated with the risk of breast cancer(OR=1.177,95%CI:0.846-1.636,P=0.333;OR=0.948,95% CI:0.287-3.137,P=0.931;OR=1.162,95%CI:0.548~1.112,P=0.360).Histological grade was significantly higher in breast cancer with rs2234909 mutation than that of the non-mutation group(dominant model:P=0.032,co-dominant model:P=0.024).The Ki67 index of FGFR3 gene locus rs2234909 mutation was higher than that of the non-mutation (dominant model:P=0.056;co-dominant model:P=0.044).There was no difference between rs3135848 mu-tation and both site mutation with clinicopathological features of breast cancer patients(P>0.05).Conclusion The SNP genotypes of rs2234909 and rs3135848 of FGFR3 gene were not associated with susceptibility to breast cancer in premenopausal women in North of China.Rs2234909 mutation was positively correlated with histological grade and Ki67 index in premenopausal breast cancer patients.%目的 探讨FGFR3基因单核苷酸多态(SNPs)与女性绝经前乳腺癌的风险关系.方法 采用多重单碱基延伸SNP分型技术(Snapshot)检测FGFR3基因的rs2234909和rs3135848的SNP基因型在绝经前乳腺癌患者和绝经前正常女性人群中的频率,并分析不同SNP基因型与绝经前乳腺癌发病的风险关系.结果 FGFR3基因rs2234909和rs3135848的SNP基因型的频率在乳腺癌与对照组间无统计学差异(P>0.05).Logistic回归分析结果显示,对于rs2234909位点,相比较于TT基因型,TC和TC+CC基因型和乳腺癌的发病风险无显著相关性(OR=1.035,95%CI:0.680~1.575,P=0.874;OR=0.985,95%CI:0.638~1.521,P=0.945);对于rs3135848位点,相比较于TT基因型,TC、CC和TC+CC基因型与乳腺癌的发病风险无关(OR=1.177,95%CI:0.846~1.636,P=0.333;OR=0.948,95%CI:0.287~3.137,P=0.931;OR=1.162,95%CI:0.548~1.112,P=0.360).rs2234909位点突变的乳腺癌患者与未突变者相比,组织学分级(显性模型:P=0.032;共显性模型:P=0.024)以及Ki67指数(显性模型:P=0.056;共显性模型:P=0.044)显著增高;rs3135848位点突变及两位点均突变与乳腺癌患者临床病理特征无显著相关性(P>0.05).结论 FGFR3基因的rs2234909和rs3135848两位点基因多态性与乳腺癌易感性无明显相关性;而rs2234909位点突变在绝经前乳腺癌患者中与组织学分级和Ki67指数呈正相关,可能提示预后不良.
    • 李春琳; 张红平
    • 摘要: 高危型人乳头瘤病毒的持续感染是宫颈癌发生过程中的必要环境因素,并已得到公认.而HPV感染的最终结局受宿主遗传易感性影响.肿瘤遗传易感性由个体基因组上单个核苷酸变异形成的单核苷酸多态性(SNP)而决定.SNP是人类可遗传的变异中最常见的一种基因,在人类基因组中广泛存在,分布广,适于快速、规模化筛查.本文就基因单核苷酸多态性与宫颈癌易感性的研究进展做一综述.%Cervical cancer is one of the most common gynecologic malignant tumor.High-risk human papillomavirus infection is the necessary environmental factor in the development of cervical carcinoma,while host genetic predisposition to the disease impact the outcome of infection.Genetic susceptibility refers to the potential susceptibility to diseases at the genetic level,can be inspired under certain conditions.Single-nucleotide polymorphisms is the new class of genetic marker,which is widely used to search cancer genes.This review will focus on the advances in the research of single-nucleotide polymorphisms in genes associated with cervical cancer in recent years.
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