显性遗传

一个可能为X染色体显性遗传的单一镫骨畸形家系的临床研究

Clinical study of a single congenital stapes malformation with possible X-linked dominant inheritance

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

目的：探讨单相抑郁症X连锁显性遗传方式的可能性。

Objective : To investigate the possibility of X-linked dominant genetic model in unipolar depression .

X连锁显性遗传性肾炎一家系相关基因排除定位分析

A Exclusive Mapping Analysis on the Gene Associated with X-linked Dominant Inherited Nephritis in One Pedigree

对308个三联体的家系调查表明这两个基因座符合X染色体共显性遗传，未发现突变。

Investigation in 308 family trios suggested a co - dominant X - linked inheritance and mutations were not found .

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 .

分析结果表明：ESR基因以加性-显性遗传方式影响产仔数。

The results indicated that ESR gene affects litter size in an additive-dominant genetic model .

家系调查结果表明，10个STR基因座在世代传递中遵循孟德尔常染色体共显性遗传规律。

The 10 STR loci follow the Mendel 's law .

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 .

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

海岛棉清除剂SOD、POD活性性状是由多效基因控制的不完全显性遗传性状。

The characteristic about Ensure system of zyme SOD , POD activity changing were dominant heredity incompletely and controlled by many gene .

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 .

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 .

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 .

结论单相抑郁症的遗传方式为多基因遗传方式，并提示单相抑郁症可能与X连锁显性遗传方式有关。

Conclusions The findings of this study suggest that the mode of inheritance of monopolar depression was in conformity to multifactorial inheritance and may be X-linked dominant multifactorial inheritance .

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 .

结论该家系中的患者们有着单一的先天性镫骨畸形伴固定的特征，家系分析显示为可能X染色体显性遗传。

Conclusion : Patients with characteristics of congenital non-syndrome stapes fixation were identified in one large Chinese family . Pedigree analysis suggested a possible X-linked dominant inheritance in this pedigree .

显性遗传先天性静止性夜盲全视野明视ERG的分析

Analysis of Full-Field Photopic Electroretinograms in Patients with Autosomal Dominant Congenital Stationary Night Blindness

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 .

简单重复序列（SimpleSequenceRepeat，SSR）技术以其丰富的多态性、共显性遗传、重复性好和操作简单等优点正广泛用于植物种质资源及育种的研究。

As a highly polymorphic , codominant , well-repeated and convenient molecular marker technique , simple sequence repeat ( SSR ) was used more and more widely in plant genetics and breeding .

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 .

在过去几年中，人们己经开始将RNA干涉技术用于临床治疗的实验研究，例如病毒感染性疾病、肿瘤和其他一些显性遗传性疾病。

In the past several years , people have tried to take advantage of RNAi to treat diseases such as virus infectious diseases , malignant diseases and some genetic diseases .

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 .

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 .

结论单纯性先天小角膜是由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，具有一定的外显率和表现度，且表现度与性别有关。

Conclusion : The simple congenital microcornea is the human phenotype blemish caused by injured DNA . It is compatible with an autosomal dominant inheritance , and has a certain extent of the penetrance and the expressivity .

大约25%的先天性白内障与遗传缺陷有关。遗传性先天性白内障有三种不同的遗传方式：常染色体显性遗传（AD）、常染色体隐性遗传（AR）和X连锁隐性遗传（XR）。

Approximately 25 % of all cases are probably due to genetic defects , the majority of these inherited non-syndromic cataracts show autosomal dominant inheritance ( AD );