查询词典 mutations

Mutations of PEDF gene may contribute to the development of human malignant melanoma.

PEDF基因的突变可能在恶性黑素瘤的发病中起一定作用。

These results, together with our previous study, suggested that, similar to the observation in the most Mendelian monogenic disorders, a complex disease may be caused by a spectrum of different mutations in a gene .

这些结果再次证明了我们的假说，在同一种多基因病中，可能存在着不同的亚群，不同的亚群可能由同一个基因不同位点的SNP 变异所引起。

These results were similar to the observation in the most Mendelian monogenic disorders, in which a spectrum of different mutations in a gene caused a disease.

这些结果表明，在同一种多基因病中，可能存在着不同的亚群，不同的亚群可能由同一个基因不同位点的SNP 变异所引起，也可能由不同的主效基因的SNP 变异引起。

It is also true that Drosophila melanogaster, which does not methylate its genome, suffers a very high rate of spontaneous mutations—from 50% to 85%—through the action of transposable elements.

这也是事实果蝇，而这还不甲醇，其基因组中，出现了非常高的自发突变，从50 ％至85 ％-透过行动的转座因子。

The homozygous mutations of ASPM gene are the most common cause of MCPH and lead to microcephaly and mental retardation.

ASPM基因的同型合子突变是造成MCPH最常见的原因，会造成病患的小脑症且心智发育迟缓。

XLF(XRCC4-1ike factor) is a newly identified protein,whose loss-of-function mutations lead to human immunodeficiency with microcephaly.

XLF(XRCC4类似因子)是新鉴定的NHEJ蛋白，其功能缺失突变可导致人类免疫缺陷伴小头畸形。

In D3 gene with 5 site mutations. There exists individual variation in the COII gene, but this variation is less than that among other members of Myzomyia Series such as An. aconitus, An. jeyporiensis, etc. In addition, one haplotype different from both An. minimus A and C was found in these 3 genes studied.②The genetic distance between An. minimus A and An. minimus C is less than that among other members of Myzomyia Series. Molecular trees based on different genes and different methods show that An.

种系发生研究表明，微小按蚊复合体亲缘种A、C间的遗传距离远小于与之近缘的同系其它成员间的距离。2个分子标记3种方法构建的基因树显示，微小按蚊A、C的种系地位非常固定，不同地域来源、不同变异类型的微小按蚊始终在同一分"枝"上，与迈蚊系其它成员相比，呈现其相对稳固的单源性。

With the development of molecular biology,a lot of genes for the inherited endocrine and metabolic diseases have been reported.Meanwhile,more and more endocrine and metabolic diseases caused by monogenic mutations have been discovered.

随着分子生物学技术的发展，相当多的遗传性内分泌代谢病的致病基因相继被报道；同时，越来越多的单基因突变所致的内分泌代谢疾病被发现。

Most families presented evidence against hMLH3 as a monogenic explanation for the familial aggregation of colorectal cancer, and most of the mutations were found in the low risk patients.

因为这些突变与疾病相关，且在散发性食管癌患者和正常对照中几乎没有此项突变的发生。

BACKGROUND: Several cardiac ion channel genes have been implicated in monogenic traits with a high risk of sudden cardiac death. Mutations or rare variants in these genes have been proposed as potential contributors to more common forms of SCD, but this hypothesis has not been assessed systematically.

背景：数种心肌离子通道基因和高危心源性猝死的单基因特性有关，这些基因的罕见突变被认为是SCD更常见的潜在促进因素，但是这一假说没有被系统的评价过。

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。