查询词典 mutations

OBJECTIVE: To analyze the relationship between MC3R gene mutations and body weight traits in Beagle dogs.

目的：分析比格犬MC3R基因突变与体质量性状的关系。

Progressive familial intrahepatic cholestasis is caused by mutations of the bile salt export pump or the multidrug resistance P-glycoprotein, resulting in chronic hepatic failure.

进行性家族性肝内胆汁淤积症是因为胆盐输出泵或多药耐药性P-糖蛋白突变的结果，常常导致慢性肝功能衰竭。

In this study, we show that myotonia congenita-related mutations influence the biogenesis and the subcellular localization of hClC-1 channels.

本研究中证实与先天性肌肉强直症相关之突变会影响hClC-1蛋白质的表现总量与蛋白质分布型态，为先天性肌肉强直症的致病机转提供一个新的方向。

Next, in a series of classic experiments on the effects of mutations in the bread mold Neurospora crassa

接下来，是一系列的对面包脉孢霉菌的突变影响的经典实验

Next, in a series of classic experiments on the effects of mutations in the bread mold Neurospora crassa.

接下来是一系列精彩的实验，内容为面包霉内粗糙脉孢霉的变化所产生的影响

Next, in a series of classic experiments on the effects of mutations in the bread mold Neurospora crassa, Beadle and Tatum explored the one-gene-one-enzyme hypothesis-the idea that each gene codes for a particular enzyme.

接着对面包发霉粗糙脉孢菌的突变试验得出一个基因一个酶的假说。

They also found 23,000 mutations in small cell lung cancer.

他们还发现了23，000突变的肺癌小细胞。

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。

Mutations in 31 known genes and additional unidentified loci can produce Charcot–Marie–Tooth disease.

他们用全基因组测序的方法对一个家庭进行特殊的诊断，在这个家庭中，有四个兄弟姐妹患有腓骨肌萎缩症-一种末梢神经疾病。31个已知基因中的突变和额外未确定的位点能够导致这种疾病。

To date,at least 400 mutations bave been studied in the cholinesterase family.

迄今为止，至少有400家庭已守到胆碱酯酶的影响。

Do you know, i need you to come back

你知道吗，我需要你回来

Yang yinshu、Wang xiangsheng、Li decang,The first discovery of haemaphysalis conicinna.

1〕 杨银书，王祥生，李德昌。安徽省首次发现嗜群血蜱。