查询词典 mutations

BACKGROUND: Neonatal-onset multi-system inflammatory disease, a rare autosomal dominantly inherited disease, belongs to a growing spectrum of autoinflammatory diseases, is characterized by urticarial rash, arthropathy, and chronic aseptic meningitis, and is associated with mutations in the cold-induced autoinflammatory gene, CIAS1, the gene that encodes the protein, cryopyrin.

背景：新生儿开始发病的多系统炎性病是一种罕见的常染色体显性遗传性疾病，属于自身炎性疾病逐渐庞大的范畴，表现特征为荨麻疹、关节病和慢性无菌性脑膜炎，它合并有冷刺激诱发的自身炎性基因 CIASI 的突变，该基因是编码蛋白质和 cryopyrin 。

For example, plants can sometimes transmit somatic mutations to their descendants asexually or sexually where flower buds develop in somatically mutated parts of plants.

例如，植物有时将体细胞突变通过无性或有性过程传递给后代，而花芽可能由植物的体细胞变异部分发育。

So they looked for the mutations in their study group of Ashkenazi, or Eastern European, Jews.

因此，他们期待为突变在其研究组的德系，或东欧，犹太人。

The mutations were induced at 410 and 411 sites of coding region, which corresponds to a substitution of asparagine to isoleucine at position 104 from the first amino acid of DHDPS mature protein.

将dhdps cDNA编码区的第410和411位核苷酸由AC突变为TT，这一突变使DHDPS成熟蛋白的第104位氨基酸由天冬酰胺变为异亮氨酸。

The associated audiologic features included progressive, prelingual, bilateral moderate to severe sensorineural hearing loss with a flat-type audiogram configuration. Among the probands of the 17 AN families enrolled for genetic study, mutations in OTOF gene were identified in 3 (18%) probands.

连同他院转介之病例共计22例，其听力丧失形式大部分为习语前、渐进性、两侧对称之感觉神经性听障，纯音听阈为正常至重度听损皆有，听力图图形多为平坦型，且颞骨之高解析度电脑断层扫瞄检查结果大部分为正常。

In the present study,using PCR amplification and automatic sequencing of EDA gene coding region,we report five mutations identified in 6 Chinese families with XLHED, including three novel ones:p.M1T,p.L62P and

其中3个点突变(p.M1T、p.L62P和p.G195E)为国际首次报道的新突变。

And according the results of the fluconazole sensitivity, differential expression level of CDR1 mRNA was showed on the candida albicans azole resistance and sensitive isolates, we want to discover the molecular mechanism of CDR1 expression regulation by detecting whether there were the mutations on the upper stream of the CDR1 gene.

CDR1基因在白念珠菌唑类耐药/敏感菌株中的表达情况观察，对念珠菌的mRNA进行NORTHERN BLOT检查，发现唑类耐药株与敏感株在CDR1基因表达上存在显著差异。3。

And according the results of the fluconazole sensitivity, differential expression level of CDRl mRNA was showed on the Candida albicans azole resistance and sensitive isolates, we want to discover the molecular mechanism of CDRl expression regulation by detecting whether there were the mutations on the upper stream of the CDRl gene.

CDRI基因在白念珠菌哇类耐药／敏感菌株中的表达情况观察，对念珠菌的mRNA进行NORTHERN BLOT检查，发现哇类耐药株与敏感株在CDRI基因表达上存在显著差异。3。

Geha believes that additional cases of immune deficiency result from mutations in the APRIL and BAFF genes, and plans to verify this in further studies.

Geha 相信，免疫缺乏另外的案件起因于变化在4月和BAFF 基因，并且计划核实这在进一步研究中。

In 1941,George Wells Beadle and Edward Lawrie Tatum showed that mutations in genes caused errors in certain steps in metabolic pathways.

1941年，乔治威尔斯比德尔和爱德华拉瓦瑞塔特姆表明，基因突变造成的错误，在某些步骤代谢途径。

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。