Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
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)。
There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.
与遗传有关的先天性白内障有多种遗传方式，其致病基因、 基因突变的位点和引起先天性白内障的表现型相继被发现。
Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.
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。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
目前根据遗传方式分为1型（常染色体显性）和2型（常染色体隐性） ，每一型根据不同基因缺陷又分为许多亚型。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
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。
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：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。
Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.
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。
An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
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。
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.
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。
At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
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。
Objective: cyst lining epithelial cell proliferation and apoptosis are implicated in the pathogenesis of cyst formation in autosomal dominant polycystic kidney disease (ADPKD).
目的：研究多囊肾病囊肿衬里上皮的增生与凋亡及相关蛋白表达。
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.
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。
As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy (CADASIL) has been paid increasing attention.
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。
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.
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。
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.
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。
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.
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。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
遗传出血性毛细血管扩张症为常染色体显性遗传病，临床少见，本文就其病理变化、临床特点进行讨论，探讨其治疗方法。附一家系25例分析。
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.
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.
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。
应用推荐