查询词典 mutation

Objective This study was to investigate the roles of TATA or G71R mutation of the undine 5'-diposphate-glucuronosyl transferase 1A1(UGT1A1) gene, A388G mutation of the organic anion transporter 2(OATP2), glucose-6-phosphate dehydrogenase(G-6-PD) deficiency to the development of neonatal hyperbiliidbinemia.

目的 探讨葡萄糖醛酸转移酶UGT1A1 TATA盒或G71R突变、有机阴离子转运因子2(OATP2)A388G突变、葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏对新生儿高胆红素血症发病的作用。

Anti-cancer and anti-mutation: Many researches prove that the acacatechin in the tea can restrain the cancer cell and the cell mutation.

抗癌及抗突变：许多研究证实茶叶中的儿茶素对癌细胞和细胞突变有抑制作用。

Results The mutation incidence of LKG was 22.96%, while the mean incidence of GPG was 7.59%(The incidences of C20-OH group, glucoside group and aglucon group were 5.32%, 6.25% and 11.00% respectively). When treated with DMBA for 4 to 8 weeks, the mutation incidence of LKG ranged from 11.10% to 40.00%, while GPG ranged from 0 to 10.70%.

结果 白斑癌变模型组突变率达22.96%，绞股蓝处理组平均为7.59%；绞股蓝各组抗突变率效佳依次为C20-OH组、总甙组、甙元组，其突变率分别为5.32%、6.25%、11.00%；DMBA诱导癌变4～8周时白斑模型组突变率为11.10%～40.00%，绞股蓝处理组为0～10.70%。

Alpha-1 antitrypsin is the most abundant circulating protease inhibitor in the body, Dr. Lomas said. Its most common deficiency mutation is the Z allele, where the amino acid lysine is exchanged for glutamic acid at position 342 in the polypeptide chain (Glu342Lys). About 1 in 1700 whites of northern European descent are homozygotes for this mutation and thus have plasma antitrypsin levels that are 10% to 15% below normal, he said.

Lomas博士表示，甲一型抗胰蛋白酵素是身体内最充分的循环蛋白酶抑制剂，最常见的缺损突变在Z对偶基因，该处的胺基酸 lysine与麸氨酸在多胜肽链的第342位置交换(Glu342Lys)；北欧血统白人每1，700人有1人是此一突变的同合子，因此血浆抗胰蛋白酵素值比正常低10%到15%。

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。

Objectives: The purpose of this study is to analyse the point mutation of DYS1 in azoospermic patient and to find the relationship between point mutation and azoospermia.

用聚合酶链反应方法检测了染色体核型正常的200例无精子症患者基因组DNA中的DYS1基因，发现8例有DYS1的缺失。

Sequencing and mutation detection in collaboration with Dr. Dunlap have localized prd-4 mutation.

和美国 Jay Dunlap合作进行了测序和突变分析，获得了生物钟prd-4基因。

Objective To investigate the FECH gene mutation in a Chinese family with erythropoietic protoporphyria, to explore the relationship between gene mutation and clinical manifestations so as to establish a basis for the genetic diagnosis and treatment of erythropoietic protoporphyria.

目的 对一红细胞生成性原卟啉病家系进行基因突变研究，探讨基因突变与临床表现的关系，为进一步开展基因诊断和基因治疗奠定基础。

A novel mutation in the donor splice site of intron 1 of FECH gene is first reported in a Chinese family with EPP; this mutation may lead to a deficiency of FECH gene and serve as a molecular basis of development of erythropoietic protoporphyria.

报道一FECH基因第1内含子供体剪接位点的新突变，该突变可能引发FECH基因缺陷，是EPP家系中患者发病的分子基础。

Chemical mutagenesis can effectively create many new peanut genotypes. And appropriateconditions of induced mutation can increase mutation efficiency and develop peanut germless resources well.

化学诱变能有效的创造各种突变体，确定诱变的适宜条件能提高诱变效率，更好地拓展花生种质资源。

The split between the two groups can hardly be papered over.

这两个团体间的分歧难以掩饰。

This approach not only encourages a greater number of responses, but minimizes the likelihood of stale groupthink.

这种做法不仅鼓励了更多的反应，而且减少跟风的可能性。