查询词典 mutation stop

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。

To study genetic mutations of methylenetetrahydrofolate reductase C677T and cystathioinine-β-synthase T833C related to homocysteine metabolism in patients with ischemic stroke, the MTHFR gene C677T gene mutation and the CBS T833C gene mutation were detected by PCR-RFLP or ARMS method in 74 patients with ischemic stroke and 83 normal people for control. Results showed that the frequencies of MTHFR genet homogenetic type(2.7%), heterogenetic type(51.4%) and T allele(28.4%) in ischemic group were higher than those in control group(1.2%, 39.8% and 21.1%, respectively).

为研究同型半胱氨酸代谢相关酶亚甲基四氢叶酸还原酶基因C677T和胱硫醚-β合成酶基因T833C位点碱基突变与缺血性脑卒中的关系，对74例缺血性脑卒中患者和83例健康对照者，采用聚合酶链反应-限制性片段长度多态性技术检测MTHFR基因C677T基因型，用扩增阻滞突变体系法检测CBS基因T833C突变。

Moreover,7449, a novel homoplasmic mutation in the tRNA-Ser gene, was found to co-exist with 1555 mutation in two maternal members.

另外，新发现一个线粒体DNA突变--7449，但该突变仅在2名母系成员中存在。

Results Fourteen individuals from two pedigrees carried homoplasmic 1555G mutation. Seven sporadic patients and the five mothers did not have 1555G mutation.

结果 两个家系的14份样品为1555G点突变阳性，散发病例及部分亲属的12份样品全部为1555G点突变阴性。

The D-loop region was found to be a hot spot for somatic mutation in mtDNA of the tumors. The results revealed that 45.7 %(16/35) of the HCCs carried somatic mutation in the D-loop region, and the most mutations are homoplasmy.

过去的研究显示：粒线体DNA D-loop 区域是发生体突变的好发点，本论文的结果显示有45.7 %(16/35) HCC含有D-loop 区域体突变且多为同质性。

Continuously improve the production mechanism, to provide customers with better quality products and services.

不断的完善生产机制，给客户提供更优质的产品及服务。

B:Yes, he was the very prize-winner in the court tennis ten years ago?

是的，他是十年前的世界网球冠军。