致病基因

想法就是，先从病人身上分离出皮肤干细胞，然后在细胞培养中用特异性ZFN来处理这些皮肤干细胞以便关闭致病基因。

The idea is to isolate skin stem cells from the patients , then to treat these skin stem cells with specific ZFN in cell culture in order to switch off the disease-causing gene .

伴随致病基因和编码蛋白的不断发现，预计越来越多新的疾病类型被认识。

More and more new diseases were identified accompanied with new disease-causing gene and protein being found .

方法先进行X染色体扫查，排除致病基因位于X染色体的可能；

Methods Firstly , X chromosome scanning was used to exclude X chromosome .

一种新的X连锁精神发育迟滞综合征的致病基因克隆和功能分析

Identification and Characterization of the Gene Responsible for a Novel X-Linked Mental Retardation Syndrome

在家族中，致病基因可以常染色体显性、常染色体隐性或X连锁遗传的方式传递。

In families , The inheritance patterns are autosomal dominant , autosomal recessive or X-linked recessive .

ATM是此病的致病基因，编码ATM蛋白激酶。

The gene responsible for A T encodes the ATM protein kinase .

RAS基因是妊高征主要的致病基因。

RAS genes are the capital virulence genes of preeclampsia .

一个汉族家族性IgA肾病致病基因的初步定位

Initial Mapping of a Pedigree with a Chinese Family with Familial IgA Nephropathy

结论：W家系发病为未知致病基因的突变引起，本项研究为定位克隆新的致病基因奠定了基础。

Conclusion : The causal gene of pedigree W remains unknown yet and the study provided the basis for further positional cloning .

MCMCBayes方法在双相情感性精神障碍致病基因研究中的应用

Application of MCMC Bayes on Gene Study of Bipolar Disorders

利用SNP进行遗传病致病基因搜寻的策略

The strategy of searching disease genes using SNP markers

先天性骨-肾畸形综合征小鼠（KM-ld）致病基因1d的染色体定位

Chromosomal Mapping of ld Gene Which Causes Congenital Limb Deformity Syndrome in KM-1d Mouse

ACE基因是否与原发性高血压的其它致病基因存在紧密连锁关系也需要进一步研究。

Additional research is needed to better understand the relationship between ACE gene and risky factors of hypertension .

目前随着分子遗传学技术的快速进展，通过连锁分析和关联研究越来越多与CAD相关的易感或致病基因被相继发现。

Following the rapid progression of the molecular genetic techniques , a lot of sensitive or causative genes related with CAD were found by linkage or association study .

目的：研究特异性分离中国汉族人多囊肾病1型致病基因（polycystickidneydiseasegene1，PKD1）多拷贝区的方法，以排除同源序列对该基因突变检测的干扰。

Objective : To specifically amplify the polycystic kidney disease gene 1 ( PKD1 ) via long range PCR .

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 .

SCA致病基因定位及中国汉族人群SCA亚型频率分布

Mapping the Disease Gene in SCA Families and the Frequency Distribution Analysis of Different Subtypes of SCA in Hans of China

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 .

生物技术药物以人类体细胞的基因组、转录本组和蛋白质组三个层次生物大分子为目标，基因药物的研究主要针对致病基因的DNA和基因转录本mRNA两类生物大分子。

Biotech drugs are targeting DNAs , transcripts and proteins of disease related genes in human cells , among which gene drugs focus on functional gene duplex DNAs and mRNA transcripts .

Parkin是隐性遗传性少年型帕金森病的致病基因。

Parkin is a causative gene of autosomal recessive juvenile parkinsonism .

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 .

结论发现了与家系4高度连锁的3个SNPs，排除了60个候选基因是汗孔角化症致病基因的可能性。

Conclusion 60 candidate genes were excluded . 3 SNPs were detected linking to the disease in this family .

单纯性CHD的致病基因很多，它们之间存在相互影响和协同调节，在心脏发育的不同时期有着不同的表达与调节。

Simple CHD is caused by many genes , which have different expression and regulation in different cardiac developmental stages and interact and collaborate with each other .

随着基因结构与基因功能研究的不断深入，特别是人类基因组项目的快速进展，已迅速推动人类疾病的DNA诊断及基因治疗的研究，发现及鉴定了大量致病基因。

With the deeper research on the structure and function of human gene , especially the fast progress of the Human Genome Project , the study on DNA diagnosis and gene treatment of human disease has been greatly promoted .

遗传性乳光牙本质致病基因DSPP的突变分析

Mutation analysis of disease gene DSPP in dentinogenesis imperfecta Shields type ⅱ

结论PCR检测痢疾杆菌的致病基因具有简便、快速、特异、敏感和不需培养等特点，适于临床应用。

Conclusion The method of PCR to detect the invasion associated genes of shigella is simple , special , sensitive , quickly and saving time . This new method can be widely used to clinic .

目的研究中国家族性及散发性肥厚型心肌病（HCM）患者的致病基因突变位点的异同。

Objective To compare the gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy ( HCM ) .

目的探索Stargardt病的致病基因。

Objective To investigate the disease causing gene of Stargardt disease .

遗传性LQTS致病基因的突变也与很多普通药物诱导的LQTS相关。

Mutations in genes for inherited LQTS are also associated with much more common drug-induced LQTS .

WD是神经科较为常见的常染色体隐性遗传病，其唯一致病基因为ATP7B基因。

WD is a common autosomal recessive inherited neuropathy , whose only pathogenic gene is ATP7B .