单基因病

共发现遗传病种类131种，其中单基因病67种、3563例，占遗传病例15.21%；

Altogether , we 've found 131 kinds of hereditary disease , among the whole , monogenic disease has 67 kinds , 3563 cases , make up 15 . 21 % of hereditary disease ;

目前，使用PGD技术，可以测试出许多种不同的疾病，包括非整倍体，单基因病和染色体易位等。

Currently , we are able to perform PGD for many genetic conditions including single gene disorders and chromosome abnormalities .

三种单基因病的分子诊断与产前诊断

Molecular Diagnosis and Prenatal Diagnosis of Three Monogenic Diseases

其中单基因病21种，患病率为5.388‰；

Among them there are 21 types of monogenic diseases and prevalence rate is 5.388 ‰;

为开展其他单基因病的无创性产前遗传学诊断研究提供了新的思路。

It provides a new thinking way of non-invasive prenatal genetic diagnosis for single-gene disorders .

我们把他们分为三大类：单基因病，多基因病以及获得性基因病。

We divide them into three major categories : single gene diseases , multiple genes diseases and acquired gene diseases .

多基因病、单基因病和染色体病的患病率分别为2.87‰、1.91‰和0.10‰。

The prevalence of polygenic diseases , monogenic diseases and chromosomal diseases was 2.87 ‰, 1.91 ‰ and 0.10 ‰ respectively .

镰状细胞是世界上最常见的单基因病之一，它主要影响非洲、印度、地中海和中东人的后裔。

Sickle cell is one of the most common single-gene disorders worldwide and primarily affects people of African , Indian , Mediterranean and Middle Eastern descent .

遗传病是影响人口素质的重要因素，也是出生缺陷的主要原因。遗传病包括染色体病、单基因病、多基因病和线粒体病。

The genetic disease is an important factor affecting the quality of the population and the main cause of birth defects , including chromosomal diseases , single gene disorders , polygenic disease , and mitochondrial disease .

人类单基因病的遗传方式有常染色体显性遗传，常染色体隐性遗传；本文详述了这几类遗传方式的特点，简要比较了各遗传方式的不同。

About human monogenic diseases , there are many kinds of inheritance patterns . in this paper , we described the characters of these inheritance patterns in detail , and compared briefly the differences and similarities between them .

RP是单基因遗传病，在遗传和表型上均具有较大的异质性。

RP is very heterogeneous , both phenotypically and genetically .

RP是一组具有高度遗传异质性的单基因遗传病。

Most forms of RP are monogenic and genetic heterogenetic .

Bayes定律在单基因遗传病再发风险估计中的应用

The Application of Bayes Theory to the Relapse of Hereditary Disease from Single Gene

结果：（1）单基因遗传病引起的智力低下21例，占2.50%，其中AR病18例、AD病1例、XR病2例；

Results : 21 cases were due to monogenic disorders ( 2.50 % );

一致的观念认为常染色体隐性遗传性青少年型帕金森综合症（AR-JP）是parkin基因突变引起的一种单基因遗传病。

There is an agreement that autosomal recessive juvenile parkinsonism ( AR-JP ) is a monogenic disease caused by mutation in parkin gene .

人类单基因遗传病的遗传方式

Inheritance Patterns of the Human Monogenic Diseases

α-地中海贫血是世界上最常见的单基因遗传病，也是我国南方各省最常见、危害最大的遗传病。

α - thalassemia is the most common human monogenic hereditary diseases in the world .

对有家族史的家系进行分析显示，本病不具有各种单基因遗传病的特点；

An analysis of families with positive history revealed that AIS showed no monogenic inheritance ;

背景与目的：肿瘤发生和发展是一种进行性的多基因紊乱疾病，比单基因遗传病要复杂的多，是诸多基因改变共同作用的结果。

Background Objectives : Carcinoma , which carcinogenesis is complicated , is a kind of multigenic disorder .

β地中海贫血和脊髓性肌萎缩是两种常见的单基因遗传病。

β - thalassemia and Spinal muscular atrophy ( SMA ) are two common autosomal recessive diseases .

基因治疗最初是以治疗单基因遗传病为主，而现在已广泛用于治疗肿瘤。

Nowadays gene therapy is applied extensively in the field of tumors as well as disease of monogenic inheritance .

本课程的五个重要内容包括染色体病、单基因遗传病、多基因遗传病、遗传学诊断与遗传咨询。

The field of this course mainly studies the chromosomal disorder , single gene disorder , polygenetic disorders , genetic diagnosis and counseling .

另外研究也发现精神分裂症不是简单的单基因遗传病，而可能是多个微效或中效基因共同作用的多基因疾病，并且还受到环境因素的影响。

It is also found that schizophrenia is not a monogenic disease , but probably a polygenic disease influenced by multiple genes with small or medium risks and by environment factors as well .

对糖尿病和肥胖病病因学研究的不断发展使许多单基因糖尿病和肥胖病被发现。

With the development of genetic studies for diabetes and obesity , many monogenic diabetes and obesity genes have been identified .

目的建立单卵裂球PCR技术，为开展单基因病的着床前遗传学诊断奠定基础。

Conclusion : Single blastomere PCR is stable and reliable , and it can be used for preimplantation genetic diagnosis .