外显子

①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism and microsatellite polymorphism analysis;②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8%in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD.

①WD的基因定位研究：通过RFLP及微卫星多态性分析，应用两位点及多位点连锁软件，建立了中国人WD基因在D13q14.2-3区域的精细遗传连锁图谱，从而首次对中国人WD基因进行了精确定位；②WD基因突变研究：应用PCR-SSCP及DNA测序技术，对39个家系45名WD患者进行该致病基因的21个外显子突变筛选，发现WD基因5号外显子存在新的T插入突变，并证实中国人WD基因的突变热点为8号外显子，突变形式为Arg778Leu，其频率为22.8%；③WD的症状前诊断和杂合子检出：应用DNA重组技术对79个家系进行基因诊断，成功地进行了WD的症状前诊断和杂合子检出，并建立了WD的基因筛选的PCR-Msp 1酶切方法。

Methods PCR-SSCP and PCR product cloning, sequencing were performed to detect mutation of p16 gene exon 2 in peripheral blood of 60 patients with arseniasis caused by coal-burning pollution,at the same time,PCR-based methylation assay was performed to analyze the methylation of p16 gene exon 1. Results No p16 gene exon 2 mutation was found in 60 cases.

采用聚合酶链反应-单链构象多态性分析和PCR产物克隆测序技术对60例砷中毒患者外周血中p16基因第2外显子突变情况进行检测，同时采用甲基化敏感的限制性内切酶方法对p16基因第1外显子甲基化情况进行分析。

Direct sequence analysis of exon 17 showed that homozygous and heterozygous nonsense mutations were silent polymorphism at position 1058.

结果 发现11例外显子17和1例外显子20的异常电泳条带，外显子17的突变经顺序分析，为CAC1058→CAT1058的杂合和纯合多态性突变。

Intron sequences are removed by RNA splicing that cleaves the RNA at exon-intron boundaries and ligates the ends of the exon sequences together.

RAN 剪接内含子序列由RNA剪接去除，在外显子-内含子的交界处切开RNA，并将外显子的末端连接起来。

Through comparing exon sequences at both ends of introns of CHD genes of jungle fowls and cygnets, exons on two ends thereof are respectively designed with an upstream primer and a downstream primer: Psf: 5'CAAGGATGAGAAACTGTGCAA3'; and Psr: 5'GAATATCTTCTGCTCCTACTG3'; and the Psf/Psr primers are used for amplifying the CHD genes on Z and W chromosomes of meat pigeon feather pulp genome DNA, and finally the sex is identified according to the band type through 10 percent polyacrylamide gel electrophoresis and silver staining, wherein, female shows two bands and male shows one band.

通过原鸡和小天鹅CHD基因内含子两端的外显子序列比对，在两端外显子上分别设计上下游引物：Psf：5'CAAGGATGAGAAACTGTGCAA3'；Psr：5'GAATATCTTCTGCTCCTACTG3'；再以Psf/Psr引物扩增肉鸽羽髓基因组DNA的Z和W染色体上的CHD基因，最后经过10％聚丙烯酰胺凝胶电泳、银染，根据带型判断性别，其中雌性为两条带，雄性为一条带。

On the other hand, for ADRBK2 gene, although 15 novel single nucleotide variants were found in exonic and flanking intronic regions, the frequency of variants were very low, and only one rare missense variant and two silent variants were found in coding region.

对于ADRBK2基因，在外显子及外显子与内含子交接区域内共发现了15个新的变异，其中在编码区发现了一个罕见的错义变异Kps208S叫和两个同义变异。

For ADRBK2 gene, systematically mutation screening was performed in all 21 exonic and flanking intronic regions through direct sequencing in 48 schizophrenia probands (including 16 Japanese and 32 Chinese probands) randomly selected from our subjects, and the detected variants and eight SNPs reported in the JSNP database were genotyped in 64 trios.

对于ADRBK2基因，在48名先证者(16名日本人和32名中国人)中进行突变筛查，对ADRBK2的21个外显子的所有序列及外显子与内含子邻接区域的部分内含子进行了测序；同时对突变筛查中发现的错义突变及JSNP数据库中的有关SNP，对64个核心家庭(16个日本人核心家庭，48个中国人核心家庭)的成员进行了基因分型。

For ADRBK2 gene, systematically mutation screening was performed in all 21 exonic and flanking intronic regions through direct sequencing in 48 schizophrenia probands (including 16 Japanese and 32 Chinese probands) randomly selected from our subjects, and the detected variants and eight SNPs reported in the JSNP database were genotyped in 64 trios.

对于ADRBK2基因，在48名先证者(16名日本人和 32名中国人)中进行突变筛查，对ADRBK2的21个外显子的所有序列及外显子与内含子邻接区域的部分内含子进行了测序；同时对突变筛查中发现的错义突变及JSNP数据库中的有关SNP，对64个杨L家庭(16个日本人核心家庭，48个中国人核心家庭)的成员进行了基因分型。

Prolactin receptorgene was studied as a candidate gene for the prolificacy of Jining Grey goats. Eight pairs of primers were designed to detect single nucleotide polymorphisms of exon 3 to exon 9 and intron 9 of PRLR gene in both high fecundity breed and low fecundity breeds (Liaoning Cashmere goat and Angora goat) by PCR-SSCP.

设计8对引物，采用PCR-SSCP技术检测催乳素受体(prolactin receptor，PRLR)基因外显子3至外显子9和内含子9在高繁殖力山羊品种和低繁殖力山羊品种（辽宁绒山羊、安哥拉山羊）中的单核苷酸多态性，同时研究该基因对济宁青山羊高繁殖力的影响。

By cloning and sequencing those DNA fragments with polymorphisms we found 3 SNPs, they were as following: T→C in exon 3, G→C in introns 5,A→C in exon 6, in which A→C in exon 6 was non-synonymous substitution, it resulting in Thr→Arg.

对有多态的位点进行克隆测序，结果发现：外显子3中的一处碱基由T→C，是同义突变；内含子5中的一处碱基由G→C；外显子6中的一处碱基由A→C，是错义突变，导致苏氨酸变成精氨酸。

However, as the name（read－only memory）implies, CD disks cannot be written onorchanged in any way.

然而，正如其名字所指出的那样，CD盘不能写，也不能用任何方式改变其内容。

Galvanizes steel pallet is mainly export which suits standard packing of European Union, the North America. galvanizes steel pallet is suitable to heavy rack. Pallet surface can design plate type, corrugated and the gap form, satisfies the different requirements.

镀锌钢托盘多用于出口，替代木托盘，免薰蒸，符合欧盟、北美各国对出口货物包装材料的法令要求；喷涂钢托盘适用于重载上货架之用，托盘表面根据需要制作成平板状、波纹状及间隔形式，满足不同的使用要求。