属于或关于常染色体的。
该病属常染色体隐性遗传,与X-染色体关联,所以,母亲是基因携带者的男性表现为发病。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
皮窦是一种犬类的常染色体遗传病。
Dermoid sinus is a genetic, autosomal skin condition in dogs.
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.
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.
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.
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.
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.
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.
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.
由于常染色体上出现突变基因而导致的疾病。
A disease caused by the presence of two recessive mutant genes on an autosome.
努南综合症被定义为一种常染色体显性的遗传性综合症,其一般特征为身材矮小、先天性心脏缺损、以及独特的面部特征。
Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.
结果:①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
因为它是常染色体隐性遗传的,所以它在家族中的发病率是25%。
The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
AT M基因突变可导致共济失调毛细血管扩张症(AT),一种常染色体隐性遗传病,该病特点是不协调的肌肉运动和神经退化。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
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.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
婴儿型多囊肾又叫常染色体隐性遗传型多囊肾,是两种多囊肾中的一种。
Infantile polycystic kidney disease and autosomal recessive polycystic kidney disease, is the two kind of polycystic kidney in a kind.
常染色体隐性遗传因剩下的家系样本太少,难以预测;
Autosomal recessive inheritance was difficult to be evaluated because of few families remained.
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.
结果表明,常染色体联会复合体的相对长度和着丝点指数与体细胞染色体的相应参数具有很好的吻合性。
It is shown that the mean relative lengths and centromeric indices of autosomal SCs agree closely with those of mitotic chromosomes.
聋哑是常染色体隐性遗传病,通过遗传分析发现,减少或防止近亲结婚可以降低聋哑人的出生。
It is a recessive hereditary disease of autosome to be deaf and dumb. it was analysed through heredity that reducing or preventing consanguineous marriage can reduce the deaf-mute's birth rate.
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.
广泛性焦虑校正分离率为0.225,与常染色体隐性遗传的分离率0.25相比较,差异无显著性(P>0.05);
The segregative rate in generalized anxiety disorder was 0.225, which was not significantly different (P>0.05) from the segregation rate 0.25 in autosome recessive inheritance.
结果显示各类序列的进化水平沿常染色体呈现明显的非均匀性和规律性。
The results show that the evolution levels of each kind of sequences along chromosomes take on obvious heterogeneity and regularity.
在雌性个体中,遗传功能失活的晚复制x染色体淡染色,可以和常染色体以及另一条X染色体鉴别。
In female individuals a late replicating X chromosome which genetically was inactive slightly stained and could be discriminated from the autosomes and other X chromosome.
在雌性个体中,遗传功能失活的晚复制x染色体淡染色,可以和常染色体以及另一条X染色体鉴别。
In female individuals a late replicating X chromosome which genetically was inactive slightly stained and could be discriminated from the autosomes and other X chromosome.
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