查询词典 mutations

HBV intrauterine infection rates were compared between group with "a" determinant mutations and group without mutations.

比较HBV"a"决定簇突变组孕妇与未突变组孕妇HBV宫内感染率的差别。

The products amplified by primer 2 had polymorphism. The sequencing results indicated that there were two nucleotide mutations( C→A and C→T )at exon 1183bp and 336bp of hircine GDF9 gene, but the two mutations did not cause amino acid change. The products amplified by primer 3 had polymorphism.

所设计的6对引物扩增产物中共有3对发现了多态，引物1经SSCP分析虽然没有发现多态但经克隆测序却在外显子1编码区前-4bp处检测到A→C的突变。

Both 1447del27 and 1474ins15 mutations affect either synthesis or stability of IDUA protein by western blot analysis The data suggest that the1447del27 and 1474ins15 mutations result in the severe Hurler phenotype of the patient.

西方吸渍分析显示，重组质体转移细胞所表现的突变的IDUA蛋白质，在IDUA多株抗体侦测的底限之下。

A83 mutations in the hepatitis B virus precore gene may be associated with the chronic liverish and quantative analysis of A83 mutations could reflect the conditions of hepatitis B virus directly, which is helpful to diagnoses, therapy and prognosis judgment.

HBV DNA前C区A83变异株水平与临床病情相关，定量检测可以快速准确地反映变异株在体内的复制状态，对临床诊断、治疗和预后判断具有重要意义。

Results Fifty-eight chronic liverish patients and 13 ASC persons were detected, in which HBV DNA levels with A83 mutations (log10) were (5.37±0.60),(4.02±0.51) copiesml^(-1) respectively. Ten blood donors were not found HBV A83 mutations.

结果 有HBV DNA前C区A83位点突变的58例慢性肝病患者血清中病毒变异株DNA水平为(5.37±0.60)copiesml^(-1)，13例无症状病毒携带者血清中病毒变异株DNA水平为(4.02±0.51)copiesml^(-1)，两者比较，t=7.54，P.001，差异有高度显著性；10例献血员血清中未检测到A83病毒变异株。

Outcrossing, the second fundamental aspect of sex, is maintained by the advantage of masking mutations and the disadvantage of inbreeding which allows expression of recessive mutations (commonly observed as inbreeding depression).

有性生殖的第二个基本方面是异型杂交。异型杂交是通过掩蔽突变优势和近亲繁殖劣势来维持的。近亲繁殖允许隐性突变的表达。这与查尔斯·达尔文相一致。

Objective: Study on the mutations of Parkin gene in early-onset Parkinson's disease and analyze the effects of mutations on its function.

目的：研究早发性帕金森病患者Parkin基因的突变情况，并分析Parkin基因突变对其功能的影响。

Although many genetic mutations have been suggested as causes or risk factors for Parkinson's disease, the low penetrance of some mutations and the low disease concordance in relatives suggests that there must be interactions between multiple factors.

虽然许多遗传突变已经被认为是帕金森氏病的危险因素，但是一些突变基因的外显率低，家族相关的发病率也低，这说明一定有多因素的交互作用。

Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in t...

在3764次减数分裂中，15个STR位点共观察到有72例突变，突变率为0 。128 %±1 。104×10-3.vWA和D21S11的突变率最高(0·292 %)，TH01和TPOX位点没有发现突变。

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。

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。