查询词典 mutations

Two new point mutations were found in this fragment,and the only mutation in coding region of goat Agouti gene was analyzed again,so we named these 3 mutations were named as follow:399C＞T,128delT and 5701G＞T.

其中，5701G＞T的突变引起了山羊Agouti信号蛋白125位上氨基酸的改变。

Literature Research The etiological factors of POF are not still clear. The changes of sites and numbers in X chromatosome, X; autosome translocations, a forkhead transcription factor gene (FOXL2) mutations, FRAXA premutations and inhibits gene mutations are found in POF patients, so genetic disorders have been thought to be involved. Irradiation, chemotherapy or pelvic operations can damage ovaries and cause ovarian atrophy and failure, so it is thought one factor of POF.

一、文献研究 POF的确切病因目前尚不清楚，从POF患者体内检测到X染色体上位点和数目的变化，X染色体与常染色体间的平衡易位，脆性X基因前突变，FOXL2基因突变，抑制素基因突变等，故认为POF发生与遗传因素有关；由于放射、化疗或盆腔手术等可损伤卵巢，导致卵巢萎缩，出现卵巢衰竭，故也是导致POF的因素之一。

After 240 weeks, the cumulative probability of HBV polymerase mutations was 29%, but the cumulative probability of mutations with virologic resistance was 20% and of mutations, virologic resistance, and ALT elevations was 11%.

在治疗240周后，HBV聚合酶突变、病毒学抵抗和临床抵抗累积率分别为29%、20%和11%。4例患者有轻度肌酐水平升高。

Spontaneous mutations Mutations that occur as the result of natural processes in the cell, such as deamination caused by reaction of bases with water.

自发突变细胞中因自然过程而产生的突变，例如碱基与水反应所引起的脱氨基。

All patients presented at a young age with elevated serum Epo. Mutations at Gly-537 account for 4 of 5 HIF2A mutations associated with erythrocytosis.

所有病人在年轻时血清红细胞生成素较高，5个与红细胞增多症相关的HIF2A突变有4个是在Gly-537发生突变。

"Prophylactic oophorectomy should not be recommended to women with a high risk of breast cancer who do not have documented mutations in BRCA1 or BRCA2, since these cases may be linked to mutations in unidentified genes that do not increase the risk of ovarian cancer," he writes."The effectiveness of prophylactic oophorectomy in carriers of BRCA mutations provides a strong rationale for genetic testing in women with a strong family history of cancer."

不应该对乳腺癌发生危险较高，但没有明确的BRCA1或者BRCA2突变的女性，推荐进行预防性卵巢切除术，因为这些情况也许与未知的，与卵巢癌的发生无关的基因突变有关，」他写道：「对於BRCA突变体携带者进行预防性卵巢切除术，为有很强的肿瘤家族史的女性，进行遗传学检查，提供了强有力的依据。

Results In 1921 parentage cases, seventy cases (3.644％) were found to have mutations. Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in two children.

结果在1921例确定亲权的案例中有70例(3.644％)观察到了突变，其中1例是两个位点同时突变(D21S11 and PentaD)、1例是2个子代不同位点发生突变(D7S820 and D16S539)。

The cooperation of 8-MOP/UVA could induced dermis of the non- lesion back skin of vulgar psoriatic patients and the cultured dermic fibroblasts produced large aging-associated mutations of mtDNA rapidly, it is feasible to establish human models in vivo and in vitro which could produced large aging-assoiated mutations of mtDNA rapidly for studies of the mechanisms of mutations of mtDNA in skin photoaging.

2.8-MOP/UVA可诱导寻常型银屑病患者背部非皮损区真皮组织及培养的成纤维细胞迅速产生光老化相关的mtDNA突变，建立迅速产生光老化相关mtDNA突变的体内外模型，利用该模型进一步研究mtDNA突变在光老化皮肤中的产生机制及其在皮肤光老化形成中的作用是可行的。

In the current study, we have detected the mtDNA mutation in lung cancer, investigated the correlation between the mtDNA mutations and carcinogenesis, and explored the possibility of mtDNA mutations as a biomarker. We also analyzed the reasons for the homoplasmic mutations of mtDNA.

为了探讨mtDNA突变在肺癌发生中的意义、mtDNA突变在肺癌早期诊断中作为分子标记的可能性以及mtDNA多态性与肺癌易感性的关系，我们检测了肺癌mtDNA突变，分析了肿瘤中mtDNA同质性突变的形成原因。

A type has 7 point mutations(5 samples). B type has 6 point mutations (3 samples), C type has 4 point mutations (3 samples) and D type has 2 point mutations(1sample). Acid amino alignment shows that the most mutations of gastric cancer are mis-sense mutations, few ones are synonymous mutations. Most of the mutations occurred in regulating domain down to the HMG-box,only 2 sites in HMG-box.The mutations have same sites in middle and late stage samples. The results revealed that SOX4 mutations are associated with gastric cancer,which is possible a late accident in gastric cancer.

通过对相应的氨基酸序列的比对发现，发生在中晚期胃癌中的突变多为错义突变，同义突变不多，且突变大多发生在HMG盒下游编码区，在HMG盒内的突变只有两处，中期胃癌与晚期胃癌的突变有相同之处，但SOX4基因的突变位点随肿瘤的演进有增加的趋势。

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。