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The method introduced in this article is a promising way for estimating codon homozygosity of the absent amino acid, and it can be further used to evaluate the relative importance of nucleotide composition in determining codon usage.

本研究引入的新方法可以有效的预测基因中缺失氨基酸的密码子纯合性,同时该方法可以被用来判断基因中核苷酸组成对密码子使用影响的相对重要性。

Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases.

连锁分析,纯合性图谱和候选基因分析有助于确定LCA和少年视网膜变性患者中14个突变的基因,这些分析共同解释大约70 %病例的病因。

Homozygosity; He: Heterozygosity; Ne: Effective number of alleles; PIC: Polymorphism information content.

遗传纯合度; He:遗传杂合度; Ne:有效等位基因数; PIC:多态信息含量。

Results (1)All subjects proved to be homozygote wildtypes for the 478C→T substitution.

结果 (1)所有研究对象均无一例存在FAT/CD36基因启动子区478C→T突变,基因型均表现为478CC之纯合子,478CC和478TT等位基因频率分别为1和0。

Results Every member of the 4 pedigrees was examined genetically. Besides the 4 probands, another 1 homozygote and 8 heterozygotes were found.

结果 各家系成员均从基因水平明确了诊断,23例个体中,除先证者外,还发现1例纯合子,8例杂合子。

The results showed that exon 1 had the genotypes of AA, BB and CC, while intron 1 had the genotypes of DD, EE, FF and GG. There existed gene polymorphism in inter-species but not in intra-species. All the test species displayed genetic monomorphism and 100% of purity.

结果表明:外显子1有AA、BB和CC3种基因型,内含子1有DD、EE、FF和GG4种基因型;种间存在基因多态性,种内没有多态性,所有种均表现出遗传的单态性和100%的纯合度。

Results In the 10 members, T→C nucleotide change at the 223 base of exon 3 was detected in 9, including 6 with Best disease who was confirmed by ophthalmoscopy and electrophysiological examination in whom 2 were affirmed as having homozygote of this mutation. Other 3 young family members with VMD2 gene mutation only had abnormal electro-oculogram manifestations.

结果Best病家系10个成员中,9人VMD2基因外显子2第223位碱基C-T颠换,其中6人通过眼底和眼电生理检查证实为Best病患者,2人为该突变的纯合子;另外有3个年轻成员虽然携带VMD2基因突变,临床上仅表现为眼电图的异常。

Results The vaccinal vestige, BCO immunization and familial traits were the risk factors of tuberculosis. Frequency of wildness, mutant heterozygote and homozygote of MBP-54 was difference in cases and controls.

MBP-54位点野生型、突变型杂合子、突变型纯合子3种基因型在病例组和对照组中的分布频率不同。

Mendel was also the first to hypothesize independent assortment, the distinction between dominant and recessive traits, the distinction between a heterozygote and homozygote, and the difference between what would later be described as genotype and phenotype.

孟德尔还首次假设组合,主要的区别和隐性性状之间的区别杂合子和纯合子,和之间的区别什么是后来被称为基因型和表型。

According literature above,its considerd that the former is proper to be interpreted by means of multiple alleles hypothesis,and the fertility heredity of the latter is appropriate to be interpreted using inhibition.

根据大白菜及其近缘芸薹属作物核不育材料育成的纯合两型系和杂合两型系可育株间互交F~1|可育株自交,其子代可能出现无育性分离情况或者产生13∶3两种表型的育性比资料,认为前者宜用复等位基因假说解释,而后者用抑制作用解释为妥。

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