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STR locidistribute extensively and have higher information, polymorphism, and its heredity is based on Mondel codominant inheritance. We usehalf-quantitative analysis of STR polymorphism loci, to set up a clinicalpractical method that is highly accurate in rapidly detecting and prenatalgene diagnosing Down syndrome.

STR广泛分布于人类基因组中,一般认为,人类基因组平均每6~10Kb就有一个STR基因座,STR有高度多态性并遵循孟德尔共显性遗传,具有操作简便、分型准确和丰富的多态信息量等特点,已成为第二代DNA分析技术的核心。

(1) Exon 6,7,8 have no relation with the susceptibility of HCV infection. The genetic basis of the four amino acids is highly conserved in Chinese population. Because other sites of CD81 protein are highly conserved among species, there is no or very rare polymorphism of CD8I in Chinese people.(2) The susceptibility of HCV infection has nothing to do with the genetic basis of the ligand binding region of LDLR.Postgraduate DongQiumingDirected by Professor Gao Jinsheng Professor Lu Daru

(1)CD81外显子6、7、8与HCV感染的易感性无关,以上四个氨基酸的遗传基础在中国人中是高度保守的;由于CD81蛋白的其它位点在种间是高度保守的, CD81,LDLR单核菩酸多态拄与丙型肝炎病毒感染易感性的相关性研究摘要因此,在中国人群中 CDSI蛋白的多态性稀少或不存在。u)HCV感染的易感性与LDLR的配体结合结构域的遗传基础无关。

Results The rs1549637 of PLA2G4C gene was not associated with the illness (P>0.05), but the genotypes were associated with the symptoms of schizophrenia, i.e. Delusion of reference, Delusion of grandeur, Hallucination-delusion.

结果 PLA2G4C基因上的 rs1549637位点基因多态性与精神分裂症无统计学关联(P>0.05),但该位点的基因型频率与精神分裂症的关系妄想、夸大妄想和幻觉-妄想综合症等多个临床症状相关联(P<0.05)。

Four sheep lines, HU-Yang, Chinese M erino monotocous, Chinese Merino multiparous for wool production and Chinese Merino multiparous for mutton production, were used in this study. Litter sizes were recorded for each ewe in the four lines. Primers for BMP15 and BMPR-IB gene were designed from database sheep sequence and polymorphisms were detected by PCR-RFLP method.

以绵羊BMP15基因和BMPR-IB基因为候选基因,以湖羊、中国美利奴单胎品系、中国美利奴肉用和毛用多胎品系为研究对象,采用PCR-RFLP方法对候选基因进行单核苷酸多态性位点检测和基因型分析,同时研究基因对绵羊产羔数的影响。

Small size, short life cycle, self-pollination, and high seed number, andfavorable genetic traits such as self-fertilization, a small genome, efficienttransformation, and mutagenesis.

本文采用RAPD 技术分析了盐芥居群的遗传多样性,从400 余个随机引物中筛选出了23 个扩增性强、重复性好、带型明显、多态性高的引物对盐芥居群进行分析。

It is suggested that the metabolism of heterocyclic amines generated from fried fish may be altered by genetic variability of NAT2. The rapid acetylator would increase the heterocyclic amines from pre-carcinogen to active formation.

NAT2多态性与吸烟有交互作用,特别是野生纯合型与吸烟交互作用可使直肠腺瘤复发危险度上升到22.75(95%CI 2.11-244.86,P=0.007),其机制可能为NAT2酶可能参与了烟草中产生的多环芳烃致癌物,从而涉及直肠腺瘤发生。

To search the genetic heterogeneity of ADPKD and to compare the clinical presentation between ADPKD type 1 and 2 in Shanghai Han population, develop a method of gene diagnosis by linkage analysis with microsatellite DNA tightly linked to PKD1 and PKD2 and make gene diagnosis of mutation carriers before cystogenesis, detect single nucleotide polymorphism of PKD2 and its frequence in Han population.

根据知情同意的原则,选取80名无亲缘关系的上海市汉族健康志愿者进行与PKD1和PKD2连锁的微卫星DNA多态性的研究,选取43个常染色体显性多囊肾病家系进行遗传异质性、表型差异研究及基因诊断。

Fluorescein and indocyanine green fundus angiography were used to evalute the macular morphologic results. Results The result of fundus angiography showed that 90 cases 98 eyes had choroidal neovacularization, There were exudation age-related macular degeneration 39 cases (44 eyes), idophaic CNV 23 cases (23 eyes) and highly myopia 22 cases (25 eyes), Polypoidal Choroidal Vasculpathy 4cases (4eyes), multifocal choroidit 1 case (1 eye )and nodifferentiate 1 cases.

结果 90例98只眼黄斑部出血患者的眼底血管造影结果显示有脉络膜新生血管,其中老年黄斑变性湿性型39例44只眼,中心性渗出性脉络膜视网膜病变23例23只眼,高度近视22例25只眼,息肉状脉络膜血管病变4例4只眼,多灶性脉络膜炎1例1只眼,诊断不明1例。

To isolate and clone the tumor suppressor gene on chromosomal region 7q32 that corelated with the occurrence of human NPC,we detected the genotype of polymorphic microsatellite markers on 7q32 in 24 nasopharyngeal carcinoma biopsies and matched normal lymphocyte DNA.

为了分离和克隆定位于7q32染色体区域的与鼻咽癌发病有关的抑瘤基因,检测了鼻咽癌活检组织及配对外周血标本中7q32微卫星DNA多态性位点的基因型,发现在7q32区域存在30%左右的杂合性丢失。

Polymorphisms in FSHB gene and association with egg production traits The SSCP detection of PCR products showed that FSHβpro site was polymorphismic in two population. Six nucleotide variation at G-494A, T-470A, A-464G,-450A insertion, A-405G and A-361G,were identified in promotor region of TaiHu chicken;Three nucleotide variation at A-464G,-450A insertion, A-405G,were identified in promotor region of blue eggshell chicken,three genotype.

FSHβ基因多态性与产蛋性状关系 FSHβ基因5'调控区和外显子3经PCR-SSCP检测发现,两个鸡群在FSHβpro位点都有多态,太湖鸡发现6处碱基差异,分别是:G-494A,T-470A,A-464G,-450插入碱基A,A-405G,A-361G;而绿壳蛋鸡在该位点有3处突变,分别是A-464G,-450插入碱基A,A-405G,有3种基因型。

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