常染色体遗传

唐氏综合征（Downsyndrome，DS）是一种引起精神发育迟滞的最常见的常染色体遗传性疾病，由于其特殊的基因型导致了特殊的认知障碍表型。

Down syndrome ( DS ) is one of the most common genetic diseases with mental retardation . DS has characteristic cognitive impairment phenotype because of its unique genotype .

遗传性长QT综合征（LQTS）是一种常染色体遗传性心脏病。特征性表现为心电图上QTc延长，及尖端扭转型室性心动过速（TdP）导致的晕厥和猝死。

The hereditary long QT syndrome ( LQTS ) is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms ( ECGs ), syncope and sudden death .

常染色体遗传型视网膜色素变性相关基因的研究进展

Progress in the gene-related study on autosomal retinitis pigmentosa

常染色体遗传模型及稳定性

Model and Stability of Autosome Heredity

在本家系中遗传因素是腰椎间盘突出症的主要诱发因素，且可能与常染色体遗传有关。

They are all suffered from lumbar disc herniation . In this familial system genetic factor is not only the main inducted factor but also relating to the autosomes .

常染色体显性遗传视神经萎缩的线粒体DNA含量减少

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy

中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析

TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

6例家族性PD患者中，发现1例有第5外显子缺失，其遗传模式呈常染色体隐性遗传，起病年龄60岁；

In the 6 familial PD patients , 1 had exon 5 deletion .

人群中，大部分遗传性白内障是外显率较高的常染色体显性遗传，但也有X连锁和常染色体隐性遗传存在。

It is usually inherited as an autosomal dominant trait , although autosomal recessive and X-linked inheritance are seen less commonly .

分离分析结果显示，U×U多发家庭组和U×A家庭组可以接受常染色体隐性遗传的假设；

The results of segregation analysis indicate that the genetic pattern of UU multiplex families and UA group is autosomal recessive .

目的：对一个常染色体显性遗传扩张型心肌病（familialdilatedcardiomyopathy，FDCM）家系进行基因定位。

Objective To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect .

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 .

常染色体STR遗传标记在同胞鉴定中的应用

Application of autosomal STR genetic markers in siblings identification

晶体蛋白βA1基因缺失突变导致常染色体显性遗传核性先天性白内障

Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the β A1-crystallin gene

晶状体蛋白βB1基因错义突变引起常染色体显性遗传性白内障

Missense mutation in the β B1-crystallin gene caused autosomal dominant congenital cataract in China

结节性硬化综合症（TuberousSclerosisComplex，TSC），是一种以全身多器官错构瘤病变为特征的常染色体显性遗传性疾病。

Tuberous sclerosis complex ( TSC ) is an autosomal dominant disorder characterized by hamartomas in the affected organs .

先天性垂体性侏儒症的遗传方式有常染色体显性遗传，常染色体隐性遗传和X染色体遗传，其中常染色体隐性遗传是最常见的一种，目前已发现该疾病的致病基因有17个。

Inherited Pituitary Dwarfism can be inherited in autosomal dominant , autosomal recessive , or X-linked patterns . However , autosomal recessive is the most common form of it .

云南苗族常染色体STR遗传多态性及其遗传结构分析

The Genetic Polymorphism and the Structural Analysis of STR Loci of Miao Nationality in Yunnan Province

目的研究我国一个4代常染色体显性遗传视网膜色素变性（RP）家系患者的致病基因突变位点及临床表型特征。

Objective To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype .

遗传性皮肤病和非综合征型神经性耳聋（nonsyndromichearingimpairment，NSHI）是两大类比较重要的常染色体显性遗传病。

Inherited skin disease and nonsyndromic hearing impairment are two important autosomal dominant diseases .

常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析

The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

结果在20例常染色体显性遗传HSP家系的先证者和10例散发性HSP患者中均未发现异常SSCP条带，第7号外显子直接DNA序列分析亦无异常。

Results No abnormal SSCP bands were found in the 30 individuals and the results of DNA direct sequencing were also normal .

遗传性血管性水肿是由C1酯酶抑制剂基因突变所致的一种罕见的常染色体显性遗传性疾病。

Hereditary angioedema is a rare autosomal dominant genodermatosis caused by C1 inhibitor ( C1 INH ) gene mutations .

通常认为EV是一种常染色体隐性遗传病，但是也有常染色体显性遗传及x连锁隐形遗传等多种遗传方式的报道，揭示了其遗传异质性。

It is universally recognized that the mode of EV transmission may likely be autosomal recessive , but autosomal dominant and X-linked recessive inheritance have also been reported .

结论：LP是一种罕见的常染色体隐性遗传病，中国人群中其致病基因的突变频率很低；

Conclusion : LP is an autosomal recessive disease , and the mutation of pathogenic gene of LP is rare in Chinese people .

结论：证实EXT为常染色体显性遗传病，本组外显率为97%。

Conclusion : EXT is an autosomal dominant disorder and the penetrance is 97 % in this report .

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 .

Wilson病是一种由铜蓄积引起肝脑损害的常染色体隐性遗传病。

Wilson 's disease ( WD ), an autosomal recessive disorder , is caused by copper accumulation resulted in subsequent damage to liver and brain .

结果28例中5例有家族史，呈常染色体隐性遗传（ARJP）；

Results Among the 28 cases , 5 patients from 3 families had familial history and presented autosomal recessive inheritance ( AR-JP ) .

播散性浅表性光线性汗孔角化症（Disseminatedsuperficialactinicporokeratosis，DSAP）是一种少见的慢性角化性皮肤病，呈常染色体显性遗传。

Disseminated superficial actinic porokeratosis ( DSAP ) is an uncommon autosomal dominant chronic keratinization disorder .