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；

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

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。

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）。

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；

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

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。

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。

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。

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。

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）。

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。

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；

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

一内含子区突变nt1486C→T；

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。

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

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。

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

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。

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。

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。

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。

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

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。

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.

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。

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。

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。

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

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.