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So far transgenic knockout models of AQP1, AQP3, AQP4 and AQP5, and a knock-in model introducing a point mutation (T126M) that causes autosomal recessive nephrogenic diabetes insipidus in human have been successfully established. Significant progresses have been made in characterizing the physiological functions of these AQPs by systematic mouse phenotype studies.

目前AQP1、3、4、5基因敲除和AQP2基因点突变的基因敲入小鼠模型(模拟人类常染色体隐性遗传尿崩症)已成功建立并广泛用于表型研究,在AQP水通道蛋白生理功能方面获得许多重要进展。

Objective To investigate the clinical, genetic and pathological features of familial chronic progressive external ophthalmoplegia type of mitochondrial myopathy.

目的 探讨家族性慢性进行性眼外肌瘫痪型线粒体肌病的临床、遗传和病理特点。

Objective To explore the parents phenotypes in women with polycystic ovary syndrome.

目的 探讨多囊卵巢综合征患者父母亲的遗传表型。

The HardyWeinberg equilibrium for genotypic distribution was estimated by the goodnessoffit test.The UNPHASED program was applied to perform the transmission disequilibrium test and the combined effect analysis of the paired SNPs.

利用拟合优度χ2检验分析等位基因和基因型分布频率是否符合哈迪-温伯格定律,应用遗传统计学软件进行2个SNPs的传递不平衡检验以及双位点联合作用分析。

To develop novel live attenuated influenza vaccine, we explored the feasibility to attenuate influenza virus by codon deoptimization of NS1. According to the codon usage bias in influenza A virus, we designed and synthesized a condon-deoptimized NS gene by substituting codons of 110 amino acids in the NS1 gene of A/Puerto Rico/8/34(H1N1) with unpreferred synonymous codons.

根据A型流感病毒密码子使用偏嗜性,选取稀有密码子对A/Puerto Rico/8/34(H1N1)病毒NS1基因内部110个氨基酸区域进行密码子同义突变改造,并全基因合成NS基因,利用反向遗传操作技术拯救出含有密码子去优化NS1基因的重组病毒。

By PCR analysis using specific primers, one specific band at 600~700 bp was distinctively present in cms backcrossed generations. It was genetically stable and cytoplasmically inheritable in the various backcrossed progenies.

根据Brassica nap型细胞质雄性不育相关基因orf222设计兼并引物,利用特异引物PCR方法,分别在不育源、F1、BC2以及BC3世代中扩增出一条600~700 bp 大小的特异条带,而在叶用芥菜保持系中无此条带,具细胞质基因遗传特性。

Genetic susceptibility modulates the impact of obesity on risk for type 2 diabetes.

遗传易感性调节着肥胖者患2型糖尿病的可能性大小。

The roll crown curve collocation optimal design system based on the mended niche genetic algorithm has been developed.

以改进的小生境遗传算法为手段,对辊型进行了优化。

Objective To probe the role of the glucagon rec eptor gene in the background of type 2 diabetes mellitus in Chinese.

目的 探讨胰升糖素受体基因在中国人2 型糖尿病遗传背景中的地位。

By mitochondrial DNA control region sequencing the relationship of haplotype phylogenies can be reconstructed to distinguish the Taiwan ring-necked pheasant and imported ring-necked pheasant. Additionally, the sequencing can be used to analyze genetic diversity and genetic structure. The results are expected to provide the reference base for identifying and conserving Taiwan ring-necked pheasant.

本论文研究结论建议,未来进行原生环颈雉族群保育或人工复育计画时,可利用外部形质测量分析、粒线体DNA基因型与遗传多样性分析,做为环颈雉各原生或外来族群的个体辨识工具,并提供拟订族群保育及复育经营措施之参考依据。

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