人类基因遗传 -- -- 高级

What is meant by human  genetics ?
::人类遗传学意味着什么?

Understanding the inheritance of and genes . Understanding how this DNA makes a normal, healthy individual, and how this DNA may result in a disease phenotype . And understanding how to treat those phenotypes. In other words, The genetics of us. That's a tremendous endeavor. And we may never understand all there is to know about human genetics.
::了解基因的遗传和基因。 了解DNA如何使一个正常、 健康的个体, 以及DNA如何导致一种疾病。 了解如何治疗这些基因类型。 换句话说, 我们的基因。 这是一项巨大的努力。 我们可能永远无法理解人类基因学的全部知识。

Human Genetics
::人类遗传基因

Genetics is the branch of biology that focuses on heredity . The basics of heredity are similar for all organisms that reproduce sexually: the offspring receive one set of genetic material from one parent and the other set from the other parent. But are there aspects of genetics that are specific for humans? Let’s find out.
::遗传学是注重遗传生物学的分支。 遗传学的基本原理对于所有性繁殖的生物来说是相似的:后代从父母一方获得一组遗传材料,而另一组则从父母另一方获得。 但是,人类的遗传学中是否有某些方面是特有的?让我们来看看。

Human genetics is the study of inheritance as it occurs in human beings. Human genetics addresses questions concerning human life. These include questions about human nature, human and disease, and the diagnosis and treatment of disease. The general field of human genetics encompasses a variety of overlapping specific fields including: classical genetics, cytogenetics, , biochemical genetics, genomics, , developmental genetics, medical genetics and genetic counseling. All of these specific fields, however, analyze the inheritance of genes in humans. As the gene is the unit that determines a trait, it is also the unit that determines a disease phenotype.
::人类遗传学是人类遗产的研究,人类遗传学涉及与人类生命有关的问题,其中包括人性、人类和疾病以及疾病诊断和治疗等问题,人类遗传学的一般领域包括一系列相互重叠的具体领域,包括:古典遗传学、细胞遗传学、生物化学遗传学、基因组学、基因组学、发展基因学、医学遗传学和遗传咨询,但所有这些具体领域都分析了人类基因的遗传遗产。基因是确定特征的单位,因此也是确定疾病型体的单位。

A genetic disease is a phenotype due to a in a gene or . Many of these mutations are present at conception and are therefore in every of the body. Mutant may be inherited from one or both parents, resulting in a dominant or recessive hereditary disease. Currently, there are over 4,000 known , with many more phenotypes yet to be identified. Theoretically, every human gene, when disrupted due to a mutation, could result in at least one disease-type phenotype, including prenatal lethal phenotypes. Genetic diseases are typically diagnosed and treated by a geneticist , a medical doctor specializing in these disorders, many of which are extremely rare and difficult to diagnose. Individuals and families with genetic diseases, or suspected genetic diseases, are often counseled by genetic counselors , individuals trained in human genetics and counseling. To understand human genetic diseases, you first need to understand and genes.
::遗传疾病是一种基因或基因中的基因类型。许多这些突变存在于孕期,因此存在于身体中。变异可能是从父母一方或双方继承的,从而导致一种主要遗传疾病或后世遗传疾病。目前,已知的有4 000多人,其中尚有许多苯型有待确认。理论上,每个人类基因,如果因突变而中断,都可能导致至少一种疾病类型,包括产前致命苯型。遗传疾病通常由一名遗传学家、专门治疗这些疾病的医生诊断和治疗,其中许多病症极为罕见,难以诊断。患有遗传疾病的个人和家庭或疑似遗传疾病的,往往由遗传顾问、受过人类遗传学和咨询培训的个人提供咨询。为了了解人类遗传病,你首先需要了解和基因。

Two of the most important human medical geneticists are Victor A. McKusick (1921–2008) and David L. Rimoin (1936-2012). Dr. McKusick is widely regarded as the '"Father of Medical Genetics." He was the original author and editor of Mendelian Inheritance in Man (MIM) and its online version Online Mendelian Inheritance in Man (OMIM) , a database of heritable diseases and genes. In 1957, Dr. McKusick established a medical genetics clinic at Johns Hopkins University, thought to be one of the first two such clinics in the US at that time. Today there are over 100 such clinics throughout the US, and many more throughout the world, training thousands of individuals. Dr. McKusick also played a leading role in investigating whether Abraham Lincoln had the genetic disorder Marfan syndrome.
::两位最重要的人类医学遗传学家是维克托·麦库西克(1921-2008年)和戴维·里莫因(1936-2012年 ) 。 麦库西克博士被广泛视为“医学遗传学之父 ” 。 他是曼迪利安继承人(MIM)的原始作者和编辑及其在线版《曼迪利安继承人(OMIM ) 》 ( Online Mendelian Inheritance in Man ( OMIM ) ) ) 。 在1957年,麦库西克博士在约翰·霍普金斯大学(Johns Hopkins University)建立了一个医学遗传学诊所,被认为是当时美国最早的两个这样的诊所之一。 今天,美国有100多个这样的诊所,全世界还有更多的这样的诊所,培训了成千上万人。 麦库西克博士还在调查亚伯拉罕·林肯(Abraham Lincoln)是否患有遗传病综合症方面发挥了主导作用。

Dr. Rimoin is considered by many to be the founder of the medical genetics clinical specialty. He was the founding president of the American College of Medical Genetics and Genomics (ACMG) and a founding president of the American Board of Medical Genetics. He was a pioneer in the study of dwarfism. He developed a Tay-Sachs screening program and determined that is caused by a variety of genetic abnormalities. Both Drs. McKusick and Rimoin were experts and pioneers in the study of the clinical and genetic understanding of human skeletal disorders.
::许多人认为,Rimoin博士是医学遗传学临床专业的创始人,他是美国医学遗传学和基因学学会(ACMG)的创始主席和美国医学遗传学委员会(ACMG)的创始主席,他是侏儒主义研究的先驱,他开发了一个Tay-Sachs筛查方案,确定这是各种遗传异常造成的。McKusick博士和Rimoin博士都是研究人类骨骼疾病临床和遗传知识的专家和先驱。

Summary
::摘要

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• Human genetics is the field of biology that focuses on the study of inheritance in humans.
  ::人类遗传学是生物学领域,侧重于研究人类遗产。
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• A genetic disease is a phenotype due to a mutation in a gene or chromosome. Many of these mutations are present at conception, and are therefore in every cell of the body.
  ::基因疾病是一种因基因或染色体突变而导致的苯型,其中许多突变存在于受孕时,因此存在于身体的每一个细胞中。
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• Currently there are over 4,000 known genetic disorders, with many more phenotypes yet identified.
  ::目前已知的遗传疾病超过4 000种,目前还查明了更多的苯型。

Review
::回顾

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1. Describe human genetics.
   ::描述人类遗传学。
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2. What is a genetic disease? Give an example.
   ::什么是遗传疾病?举个例子。
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3. How many genetic disorders exist?
   ::有多少遗传疾病存在?