exon

Detection of exon 11 mutation in PAH gene of classical phenylketonuria in Inner Mongolia

内蒙古经典型苯丙酮尿症PAH基因外显子11突变的检测

Objective To explore the mutation of RET exon 13 in sporadic medullary thyroid carcinoma.

目的研究散发型甲状腺髓样癌酪氨酸激酶受体基因(RET)第13外显子的突变情况.

Objective To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase ( PAH) gene.

目的了解中国人苯丙酮尿症（phenylketonuria，PKU）患者的苯丙氨酸羟化酶（Phenylalanine hydroxylase，PAH）基因第12外显子点突变种类和频率。

Methods 67 serologically apparent D negative blood samples were tested for Del phenotypes by using adsorption/ elution test and for RhD gene by amplifying exon 3,4,5,7,10 of the RhD gene.

方法对67例血清学方法检测为Rh阴性的供血者样本进行吸收放散试验以检测Del型，并扩增RhD基因的外显子3,4,5,7,10，检测RhD基因存在情况。

Objective To investigate whether the polymorphism of the tetranucleotide repetitive sequence located 5 ′ to the MBP gene exon 1 contributes to the susceptibility to multiple sclerosis in Chinese population.

目的探讨中国人群中多发性硬化（MS）的遗传易患性与髓鞘碱性蛋白基因5′端四核苷酸重复序列多态性的相关性。

Conclusion Exon 15 D~ ( 442)→ G mutation in cholesteryl ester transfer protein is related to the elevated level of serum high density lipoprotein cholesterol.

结论胆固醇酯转运蛋白第15外显子D442→G突变与高密度脂蛋白胆固醇水平升高密切相关。

The exon splicing products were cloned into T vectors followed by terminal adding A reaction.

外显子拼接的PCR产物经末端加A反应后，克隆到T载体中并进行测序。

Study of structural polymorphism of bcl-6 gene non-coding exon and its protein expression in transitional cell carcinomas

bcl-6基因非编码区结构多态性及蛋白表达与移行上皮癌关系研究

That exon could not FORM chemical compounds was once believed by scientists.

科学家们曾经认为稀有气体不能形成化合物.

The polymorphism of INSR gene Exon 17 has unconcern with EH whether complicated by renal damage and with renal damage complicated by hypertension as well.

肾实质性高血压患者无论是否并发肾功能衰竭，均未发现INSR基因第17外显子多态性改变。

A study of WD gene exon ′ s mutation in Anhui Han ′ s

安徽汉族人肝豆状核变性基因突变的检测与分析

Objective To study the characteristic of mutation and polymorphism in exon 4 of tuberous sclerosis complex gene ( TSC1) in Chinese.

目的探讨中国人结节性硬化症（Tuberous Sclerosis Complex，TSC）基因（TSC1）外显子4的基因突变特征及多态现象。

Four gene polymorphisms were identified in exon 7. They were Gly 551 X ( GGC → GGT ), Arg 554 His ( CGT → CAT ), Gln 567 Arg ( CAA → CGA ) and Val 582 Ile ( GTC → ATC ).

同时在外显子7上发现4个位点的基因多态性,分别为Gly551X(GGC→GGT ) 、 Arg554His ( CGT→CAT ) 、 Gln567Arg ( CAA→CGA ) 和Val582Ile ( GTC→ATC ).

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。

Methods A human gastric adenocarcinoma cell line SGC 7901 was grafted under splenic capsule of 32 mice, Ki ras gene exon 12, 13 were detected by PCR DNA method 12 weeks after the procedure.

方法将人胃癌细胞SGC7901于裸小鼠脾包膜下移植，12周后处死，采用PCR DNA测序法检测Ki ras基因第12、13密码子的突变情况。

It is a missense mutation in exon III.

它是位于外显子III的错义突变.

Results Of 50 serologically negative Rh ( D), 11 cases were weak D ( Del) and their D gene exon were intact.

结果50例Rh（D）血清学阴性样本中弱D（Del）11例，其D基因外显子均完整。

No characteristic secondary structure of exon 1 of Tat was found.

Tat蛋白的二级结构未发现规律性变化。

Determination of exon 7 mutation in PAH gene of 16 cases of phenylketonuria

16例苯丙酮尿症PAH基因Exon7突变的检测

Conclusion: Exon 18 might be one of hot points of mutation in chinese WD gene.

结论：exon18是中国人WD基因突变热点之一，大多数WD患者为复合杂合子；

By sequence alignment to Y53 ( 4L), a 13 bp repeat sequence found in exon 3 locus of Y53 ( 14L) caused reading frame shift and the alteration of amino acid sequence.

通过序列比对，结果表明与Y53（4L）相比较，Y53（14L）在外显子3有一段13bp的重复序列，造成ORF的改变，进而引起氨基酸序列改变。

Objective: This study was to detect the mutation in exon 6 and 12 of PHA gene in Northern Chinese.

目的：检测中国北方人中苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因外显子6，12中的突变。

Study of RET Proto-oncogene Exon 13 DNA Polymorphism in Patients with Hirschsprung's Disease in Tianjin District

天津地区先天性巨结肠RET基因13号外显子基因多态性研究

Conclusion Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.

结论我国散发EOP患者存在parkin基因外显子重排突变.

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。

The research on the mutation feature of exon 13 of RET gene in Chinese Hirschsprung's disease

中国人先天性巨结肠RET基因突变及Bcl-2的表达

Base mutation were not found in the exon 5 in CGRP gene.

36例先天性心脏病患儿和对照组CGRP基因第5外显子直接测序结果未发现有碱基突变现象。

How to use high throughput exon array to analysis different mRNA isoforms expression is very important.

如何利用表现序列晶片分析信息核糖核酸同型体的表现量,是相当重要的.

Single Nucleotide Polymorphism Analysis in Chicken Leptin Receptor Exon 9

鸡瘦蛋白受体（OBR）基因外显子9单核苷酸多态性分析

Objective To investigate the association of the 48 bp variable number tandem repeat ( VNTR) polymorphism in the dopamine D4 receptor ( DRD4) gene exon III with schizophrenia in Chinese Han population.

目的在中国汉族人群中寻找散发精神分裂症与多巴胺D4受体（DRD4）基因第3外显子48bp片段可变数串联重复（VNTR）多态性的关系。