intron

Methods Long distance PCR ( LD-PCR) was used to detect intron 22 inversion among 22 HA patients and 14 members of two HA families to identify directly those with intron 22 inversion and its carriers.

方法对22例HA患者和两个家系的成员14人首先采用长距离DNA扩增（LD-PCR）技术，直接检测是否为基因倒位及其携带者；

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Further analysis revealed that the shortened protein of the two bccp isoforms is arisen from a frame-shift mutation which is caused by an adenine insertion between intron 3 and intron 4 in the gene.

深入分析后发现导致bccp2、bccp3编码蛋白长度缩短的根源在于其内含子3与4之间存在一个由碱基A插入造成的移码突变。

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Objective To study the association of the polymorphism of the 377 base pair of muscle glycogen synthase gene ( GYS1) intron 14 with type 2 diabetes mellitus and complicated with hypertension in the middle-aged and elderly people of Tianjin.

目的研究天津地区中老年人群中肌糖原合酶基因（GYS1）内含子14第377bp多态性与2型糖尿病（2型DM）及其合并高血压的关系。

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Objective To investigate the association between a 27 base pair ( bp) variable number of tandem repeats ( VNTRs, 4a/ 4b) polymorphism in intron 4 of the eNOS gene and diabetic nephropathy in type 2 diabetes mellitus of northern Chinese.

目的探讨内皮细胞型NO合成酶（eNOS）基因第4内含子一个27bp的可变数目串联重复序列多态性（VNTRs，4a/4b）与中国北方汉族人2型糖尿病（DM）合并肾病（DN）的相关性。

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Analyzed functional sites contain transcription start sites, transcriptional termination sites, start codon, stop codon and junction sites of intron and exon.

分析的功能位点包括：转录起始位点，转录终止位点，起始密码子，终止密码子，内含子和外显子连接处等。

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One mutation is in the intron 5: nt1486C → T;

一内含子区突变nt1486C→T；

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Initial analysis indicates that genome size and intron density is positively correlated to total intron size.

初步的统计结果表明:基因组大小跟内含子总大小、内含子密度成正比的关系.

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Objective To analyze pedigree inheritance of T53 → C in intron 1 and C59 → A in intron 4 mutations of apolipoprotein M ( ApoM) gene expression in a Han nationality Chinese pedigree.

目的分析1个中国汉族家系的载脂蛋白M（ApoM）基因1号内含子T53→C、4号内含子C59→A突变的家系遗传。

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Pedigree analysis of T53 → C in intron 1 and C59 → A in intron 4 mutations of apolipoprotein M gene expression

载脂蛋白M基因1号内含子T53→C和4号内含子C59→A突变的家系分析

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Objectives: To examine the frequency of exon 15 missense mutation ( D442G) and intron 14 splice defect ( I14A) in cholesteryl ester transfer protein gene in Chinese atherosclerotic subjects.

目的：检测中国人群动脉粥样硬化（AS）患者和正常人的胆固醇酯转运蛋白（CETP）基因15外显子D442G突变和14内含子I14A突变。

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To explore the variable number tandem repeats ( VNTR) of nucleotide sequence ATCT within intron 40 of von Willebrand factor gene in Han Chinese, polymerase chain reaction ( PCR) and polyacrylamide gel elec-trophoresis ( PAGE) were used to examine the VNTR in 71 individuals.

用聚合酶链反应（PCR）和聚丙烯酰胶凝胶电泳（PAGE）的方法，研究了71名中国汉族人142条染色体的vWF基因40号内含子的可变数目串联重复序列（VNTR）。

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The ( alignment) in between cDNA, genomic DNA and cDNA reported by Kajiwara shows that this gene includes five introns at least and all the exon-intron junctions conform to GU-AG spicing rule.

cDNA和基因组DNA比对结果表明该基因至少包括5个内含子，它们的剪切位点皆符合GU-AG规律。

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Detection of A/ G Polymorphism in Intron 2 of Porcine Adiponectin Gene and Association Analysis with Traits

猪脂联素基因内含子2的A/G突变检测及关联分析

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Studies on the Splicing Ability of Wx Gene Intron 1 in Glutinous Rice

糯性水稻中蜡质基因第1内含子的剪接活性

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The mutations of intron spliced regions can induce many diseases, and some base mutations in the middle regions of introns which do not affect splicing can also induce diseases.

内含子的剪接区域突变能够诱导很多疾病，还发现内含子中间的碱基变异尽管不影响剪切也能诱导疾病。

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To examine the relationship of 5-HTT intron 2 VNTR polymorphism to antidepressant response and adverse effect of fluoxetine, in order to provide a biological predictive index of individual antidepressant treatment.

通过研究VNTR多态性与氟西汀治疗抑郁症疗效的关系，以及VNTR多态性与氟西汀副作用的关系，为抑郁症药物治疗的个体化提供生物学预测指标。

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Methods Implicating intron 19 of the factor ⅷ gene of 6 patients with the hemophilia A and 207 unrelated X chromosomes were amplified by PCR and were analysed by means of Amp RFLPs of Hind ⅲ.

方法用PCR扩增6个甲型血友病患者家系和207条无亲缘关系的X染色体的Ⅷ因子基因19内含子，用HindⅢ酶切进行Amp－RFLPs分析。

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Objective To identify the species of biological samples by amplifying intron 8 of the TP 53 gene.

目的扩增常见动物TP53内含子8片段,确定其在法医学生物检材种属鉴定中的应用价值.

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These JRL genes have diverse exon-intron structures.

JRL基因的外显子和内含子结构多样化程度很高。

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A polymorphic tetranucleotide short tandem repeat ( STR) sequence in intron 3 of the phenylalanine hydroxylase ( PAH) gene was analysed in 52 normal individuals and 23 Phenylketonuria ( PKU) families by PCR amplification and silver staining.

应用PCR结合银染显色法分析了苯丙氨酸羟化酶基因内含子3中1个四核苷酸（TCTA）重复序列的多态性。

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Objective: To investigate the association between polymorphism of VNTR in 5-HTT intron 2 and clinical phenotype in major depression and analysis the effect of VNTR polymorphisms on depression.

目的：分析5-HTT基因第二内含子上的VNTR多态性与抑郁症临床表型的关系，以探讨VNTR多态性对抑郁症发病的影响；

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The binding site of transcriptional factor ATF was also observed in the first intron.

此外，还发现此内含子存在有转录因子ATF的结合位点。

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A splice mutation were identified in interface of exon 5 and intron 5 ( 1875+ G? A).

通过对ALD基因研究发现一例患者ALD基因外显子5内含子5交界处发生了1875+G→A。

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There are two important polymorphic sites in the SERT gene: variable number tandem repeats ( VNTRs) in the second intron, and SERT gene-linked polymorphic region [ 5-HTTLPR], which might influence the transcription efficiency of SERT gene and the stability of the mRNA transcripted.

SERT基因存在2个多态性区：VNTRs和5-HTTLPR，由此产生的不同基因型可影响SERT基因的转录效率及其mRNA的稳定性，从而影响SERT的数量、亲和力以及5-HT重吸收。

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Results F ⅷ: C of the proband and his daughter were 6. 9% and 3. 4%, respectively, each of them three had no intron 22 inversion. Double heterozygote mutation were detected in the female;

结果表型检测先证者（父亲）及其女儿的FⅧ：C分别为6.9%、3.4%；3人内含子22倒位为阴性；

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Progress in the research of mutation of genetic intron and retinitis pigmentosa

基因内含子突变与视网膜色素变性的研究进展

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One-Step PCR Method for Detecting the First Base of Splice Donor of Wx Intron 1 in Rice

PCR一步法检测水稻蜡质基因第一内含子剪接供体+1位碱基

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Conclusions The 4a allele in VNTR polymorphism of intron 4 of eNOS gene is associated with portal hypertension occurence of liver cirrhosis, and 4a allele may be a marker for genetical predisposition of portal hypertension in Chinese Han population.

结论eNOS基因第4内含子的VNTR多态性与肝硬化门脉高压症形成相关，a等位基因可能是中国人群门脉高压症的遗传易感性的基因标志之一。

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All of them have been characterized to represent DNA alterations by sequencing, including 8 point mutations ( 6 missence, 1 silent mutation and 1 in intron) and a 1 base pair insertion ( introducing a stop codon downstream).

包括8个点突变（6个错义突变，1个静息突变和1个内含子突变）和1个碱基对插入突变（在下游产生终止信号）。

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Studies on Intron Length Polymorphism and EST Single Nucleotide Polymorphism in Brassica

芸薹属内含子长度多态性和EST单核苷酸多态性研究

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