查询词典 Exon

Horizontal lines denote size and position of patients exon-deleted; broken lines denote imprecisely defined breakpoints

横线表示患者所缺失外显子的范围及位置；虚线表示未能确定的断裂点

The results showed that exon 1 had the genotypes of AA, BB and CC, while intron 1 had the genotypes of DD, EE, FF and GG. There existed gene polymorphism in inter-species but not in intra-species. All the test species displayed genetic monomorphism and 100% of purity.

结果表明：外显子1有AA、BB和CC3种基因型，内含子1有DD、EE、FF和GG4种基因型；种间存在基因多态性，种内没有多态性，所有种均表现出遗传的单态性和100%的纯合度。

PCR-RFLP in FSHR gene 5'–flanking region with exon 1 digested by restriction endonuclease TaqⅠdemonstrated that the frequencies of allele A (0.5500) and genotype AA (0.5000) in twinning cows were higher than that of allele A (0.3500) and genotype AA (0.3000) in monovular cows for Qinchuan cattle, while The frequencies of allele B (0.5937) and genotype BB(0.6875) in twinning cows were higher than that of allele B (0.5416) and genotype BB (0.4167) in monovular cows for Holstein cattle. Key words: Bovine; Twinning; FSHR gene; PCR-RFLP

FSHR基因5'端（包括侧翼序列和第一外显子）的限制性内切酶TaqⅠ的PCR-RFLP标记研究发现，在秦川牛中双胎母牛的A基因频率（0.5500）和AA基因型频率（0.5000）分别高于单胎母牛的A基因频率（0.3500）和AA基因型频率（0.3000）；在黑白花奶牛中双胎母牛的B基因频率（0.5937）和BB基因型频率（0.6875）均高于单胎母牛的B基因频率（0.5416）和BB基因型频率（0.4167），也就是FSHR基因的5'端的PCR-RFLP标记在一个品种内单胎母牛和双胎母牛之间有一定趋势，但两个品种的趋势不同。

The rate of repetitive sequences was 2.55% and no SINEs, LINEs, LTR anti-transcription elements or DNA transposon elements were found, although one11 microsatellite was found. 2 In the P1 promotor region, sequence homology between the Tibetan sheep and mouflon, goat, cattle and European bison was 99.7%, 94.2%, 85.9% and 86.5%, respectively, while that for exon 1A was 99.0%, 97.0%, 92.7% and 94.6%, respectively. 3 The molecular phylogenetic tree among these species, constructed by the neighborhood joining method based on the sequences of no-coding region of the GHR genes, placed the two Bovinae species on one branch and the three Caprinae species on the other.

在该非编码序列中，重复序列所占比率为2.55%，不存在SINEs、LINEs、LTR类反转录元件和DNA转座子元件，而发现存在一11微卫星位点；(2)在启动子P1区，藏绵羊与摩弗伦羊、山羊、普通牛、欧洲野牛各物种间同源性大小分别为99.7%、94.2%、85.9%、86.5%；而在外显子1A区段，藏绵羊与摩弗伦羊、山羊、普通牛、欧洲野牛各物种间同源性大小分别为 99.0%、97.0%、92.7%、94.6%。

Results In the 10 members, T→C nucleotide change at the 223 base of exon 3 was detected in 9, including 6 with Best disease who was confirmed by ophthalmoscopy and electrophysiological examination in whom 2 were affirmed as having homozygote of this mutation. Other 3 young family members with VMD2 gene mutation only had abnormal electro-oculogram manifestations.

结果Best病家系10个成员中，9人VMD2基因外显子2第223位碱基C-T颠换，其中6人通过眼底和眼电生理检查证实为Best病患者，2人为该突变的纯合子；另外有3个年轻成员虽然携带VMD2基因突变，临床上仅表现为眼电图的异常。

There are exon rearrangements of parkin gene in Chinese patients with AREP.

结论我国AREP患者存在parkin基因外显子重排突变；parkin基因外显子重排突变可能是我国AREP患者的主要致病因素。

Referring to clinical data, we found that the genetic styles of this SNP site in PAX9 exon 3 may be incomplete penetrance heredity.

结合临床资料还发现，PAX9基因外显子3的第89位碱基上的SNP位点的遗传方式可能为不完全外显遗传。

The relationship between the genetic deficiencies and hemorrhagic disorder were characterized. The homozygosity of the Thr359Met in the propositus with FⅦ: C activity 2% was related to severe clinical symptoms; The proband with double heterozygous lesions of Arg152Leu and one single nucleotide deletion at position 11487-9, combined with Arg304Trp in exon 8 with FⅦ activity 1% suffered severe clinical bleeding tendency. one proband with double heterozygous mutations (Agr304Trp and Arg304Gln) with 10% of FⅦ activities characterized asymptom. the heterozygous mutations (Thr359Met, Arg152Gln,-55C→T) with FⅦ: C 1%～5. 5% showed moderate or mild clinical symptoms.

其中8961 G＞T（Arg152Leu）和10966-8delC两种突变为国际首次报道，IFSla+5g＞a突变导致的异常剪接为国际首次报道。1个F7及F10基因联合缺陷家系，其中，F10基因28139 G＞T（Val384Phe）突变为国际首次报道；发现了1个由F7及组织因子(tissue factor，TF)两种基因联合缺陷导致的出血家系，其突变分别为F7基因启动子区-55C＞T杂合突变；TF 9363 C＞T（Arg131Trp）杂合多态性（频率2.63％）。6种F7基因突变发生在催化区；2种突变发生在裂解位点；1种发生在启动子区；1种突变发生在剪接位点，除一种缺失突变外，其余均为点突变；所有家系的基因突变都来自先证者的父亲和/或母亲。

Results: No methylation was found at 5'CpG island of exon 1 of p16 gene in normal tissue specimens whereas hypermethylation was found in 3 specimens of rhabdomyosarcoma.

结果： 对照7例p16基因第1外显子5'CpG岛3个酶切位点无甲基化， 3例肉瘤组织中存在这3个酶切位点的甲基化现象。

Structural analysis reveals that NAG73 has an intronless genomic sequence, which is homologous with the fourth exon and 3′UTR of Homo sapiens Growth Hormone Secretagogue Precursor Gene.

结构分析显示NAG73的基因序列无内含子，无典型的启动子序列， poly A尾。

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。