这次会议还将突出顶尖、高通量技术被开发和应用显性遗传理解。
This meeting will also highlight cutting-edge, high-throughput technology being developed and applied to understand epigenomes.
结果表明,这些指标的上位效应均不显著,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.
CT显示肝实质多个较大包囊,与显性遗传性多囊肾病人的肝脏病变相一致。
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.
卷舌和尖舌均为常染色体单基因显性遗传,能卷舌型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.
结果表明:番茄耐弱光性以显性遗传和基因互作效应为主,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.
选择加快了群体基因频率的改变,青壳蛋性状确为由一对主效基因控制的完全显性遗传性状。
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.
采用加性-显性遗传模型和统计分析方法,分析了水稻对UV -B辐射增强的抗性遗传特点。
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.)
报道了一个遗传性小眼症家系的调查结果,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.
目的:研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
结论原发性高血压是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传,具延迟外显性。
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.
目的研究常染色体显性遗传型多囊肾病肾组织中细胞外基质和多囊蛋白-1的表达及与囊肿发生的关系。
Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.
目前研究发现此病有三种遗传方式:即母源第7号染色体单亲双体、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.
结论:EBS - WC主要是常染色体显性遗传性疾病,目前尚无有效的治疗方法,确诊需依靠电镜检查。
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.
显性遗传性多囊肾患者的肾脏切面显示:实质为大囊肿取代,和正常的移植肾相比,有囊肿的肾脏多么大啊!
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.
结果表明,穗长和小穗数的遗传均符合加性—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.
结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.
先天性小眼球是一种先天发育异常性眼科疾病,遗传方式有常染色体显性遗传、常染色体隐性遗传和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.
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额叶癫(adnfle)患儿的疗效及其与生物节律的关系。
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.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是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.
双胎癫痫符合率的研究及家系脑电图的研究都提示癫痫性素质为常染色体显性遗传,且在5 ~15岁之间外显率最高。
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.
方法:筛选出患长qt综合征1型的家庭成员,并鉴定KCNQ1基因中一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.
由于各种复杂因素的影响,常染色体显性遗传的杂合子有可能出现不同的表现型,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.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
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.
按照吸烟特点进行亚组分析:在等位基因比较、纯合子比较、隐性遗传模型和显性遗传模型下,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.
作为卒中、痴呆和偏头痛的病因,伴有皮质下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.
此外,激发标签技术得到的突变体通常为显性遗传,其突变的性状可在转基因的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.
所查杯状耳均无耳聋病史及其它部位畸形。结论:杯状耳的形成是由父母双方中一方杯状耳基因决定的,家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.
本研究同时还发现了GJB2基因突变所致的三个显性遗传家系,最后对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.
本研究同时还发现了GJB2基因突变所致的三个显性遗传家系,最后对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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