• 这次会议突出顶尖高通量技术开发应用显性遗传理解

    This meeting will also highlight cutting-edge, high-throughput technology being developed and applied to understand epigenomes.

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  • 结果表明这些指标上位效应显著,均符合加性—显性遗传模型。

    The result showed that the epistatic effect in all of those traits were not significant.

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  • CT显示实质多个较大包囊显性遗传多囊肾病肝脏病变相一致

    This transverse CT scan of the liver demonstrates multiple large cysts in the parenchyma, consistent with polycystic change in the liver of a patient with dominant polycystic kidney disease.

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  • 卷舌均为常染色体基因显性遗传,能卷舌和能尖舌型分别为显性性状

    The hereditary mode of rolling tongue or pointed tongue was the dominant heredity of single gene of autosome, and the can-rolling type or can-pointed type was the dominant character.

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  • 结果表明番茄光性以显性遗传基因互作效应为主,存在部分加性遗传效应

    The results showed that the weak light-resistant ability of tomato has significant hereditary effects on dominant character and gene interaction while there exists part additive effect of heredity.

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  • 选择加快群体基因频率改变,青壳性状确为由一对主效基因控制完全显性遗传性状。

    The result indicate that population gene frequency variety expedite by selection and the test testify green-shell character is controled by a pair of complete dominant allele.

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  • 采用性-显性遗传模型统计分析方法分析水稻UV -B辐射增强抗性遗传特点。

    Genetic model for Additive Dominant and statistical analytic methods were used to analyze the inheritance of the resistance to enhanced UV B radiation in rice (Oryza sativa L.)

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  • 报道了一个遗传小眼调查结果,该家系属于先天性睑裂狭小综合症,为常染色体显性遗传

    An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.

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  • 目的研究华东地区汉族人染色体显性遗传性多囊肾病(adpkd)基因临床表现型关系

    Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.

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  • 结论原发性高血压DNA损伤引起人类表型缺陷病症符合染色体显性遗传,具延迟显性

    Conclusion: the essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.

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  • 目的研究常染色体显性遗传多囊肾病肾组织细胞外基质多囊蛋白-1表达囊肿发生的关系

    Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.

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  • 目前研究发现此病三种遗传方式:即母源第7染色体单亲双体、常染色体显性遗传及常染色体隐性遗传

    At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.

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  • 结论EBS - WC主要染色体显性遗传性疾病,目前尚无有效治疗方法确诊依靠电镜检查。

    Conclusions: EBS-WC is an autosomal dominant genetic disorder with no special treatment. The diagnosis of this condition can be confirmed by the electron microscopy.

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  • 显性遗传性多囊患者肾脏切面显示实质囊肿取代,和正常移植相比,有囊肿肾脏多么大啊!

    The cut surfaces of these kidneys in a patient with DPKD reveal that the parenchyma is replaced by large cysts. Note how large these kidneys are in relation to the normal sized transplanted kidney.

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  • 结果表明遗传符合加性—显性遗传模型基因作用以加性效应为主显性程度为部分显性

    The result indicated that heredity of spike length and number of spikelets was in accord with addictive-dominance model, and the addictive effect was mainly in gene effect with part dominance.

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  • 结节性硬化一种染色体显性遗传疾病。过去临床上主要病人有癫痫智力低下皮脂腺三大体征来诊断

    Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.

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  • 先天性眼球一种先天发育异常性眼科疾病遗传方式染色体显性遗传、常染色体隐性遗传X连锁隐性遗传

    Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.

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  • 目的探讨卡马西平睡前一次用药治疗常染色体显性遗传夜间(adnfle)患儿的疗效及其生物节律关系

    Objective to study the effect of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with carbamazepine being taken at a draught before sleep and its relationship with biological rhythm.

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  • 家族性肥厚心肌病一种以常染色体显性遗传特征的具有遗传异质性心脏疾病年轻人心源性猝死的首要病因

    Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.

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  • 双胎癫痫符合率研究脑电图的研究都提示癫痫素质染色体显性遗传5 ~15之间外显最高

    Consistent with the rate of twin studies of epilepsy and EEG in family studies suggest epileptic quality as autosomal dominant, and in 5 to 15 years old explicit rate is highest.

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  • 方法筛选出患长qt综合征1家庭成员,鉴定KCNQ1基因中个常染色体显性遗传突变基因(R190 Q)。

    Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

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  • 由于各种复杂因素影响,常染色体显性遗传的杂合子可能出现不同表现型,本文阐述了常染色体显性遗传的几种类型。

    Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.

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  • 单倍型分析显示先证者女儿具有相同致病单倍型。结论报道中国人常染色体显性遗传ed MD患者的表现型基因型。

    Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.

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  • 按照吸烟特点进行分析:在等位基因比较、纯合子比较、隐性遗传模型显性遗传模型都没有发现吸烟与肺癌有显著关联

    In the subgroup analysis stratified by smoking status, no association of smoking was found between 12139c allele and lung cancer under different genetic models.

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  • 作为卒中痴呆偏头痛病因,伴有皮质梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)越来越受到人们的重视

    As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy (CADASIL) has been paid increasing attention.

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  • 此外激发标签技术得到的突变通常显性遗传突变性状转基因的T1代表现出来,为目标突变体的筛选带来了很大的便利。

    Moreover, activation tagging mutants usually are dominant, so their phenotypes can be observed in the T1 generation, which is very helpful to screen the mutants on purpose.

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  • 均无耳聋病史其它部位畸形。结论:杯状耳形成父母双方中方杯状耳基因决定的,系分析显示为常染色体显性遗传

    Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.

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  • 研究同时还发现GJB2基因突变所致的三个显性遗传家系,最后一种突变命名进行了校正进一步丰富了GJB2基因突变相关内容

    This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

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  • 研究同时还发现GJB2基因突变所致的三个显性遗传家系,最后一种突变命名进行了校正进一步丰富了GJB2基因突变相关内容

    This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

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