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美国的医学遗传检测(英文)

北京大学学报（医学版） 2006年第1期38卷 35-37页

作者： Linda A. BRADLEY Centers for Disease Control and Prevention USA

Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing[1]. Many genetic tests identify DNAvariants; others measure biochemical markers or an-alyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and afeware used for newborn screening[2]. Agrowing number of genetic tests may have population-based *** includes determining the risk of developing a disease or condition in the future (e.g., predictive testing forbreast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medi-cines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.

关键词：产前诊断遗传学服务质量控制全面质量管理公共卫生

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中国香港地区的医学遗传学发展(英文)

北京大学学报（医学版） 2006年第1期38卷 17-20页

作者： Stephen TS LAM Hong Kong Society of Medical Genetics Hong KongChina

As a geographically integral part of south China, the population mix of Hong Kong is largely influenced by itslocation. In the past150 years, its population has increased from a fewthousand to 5.7 million. This is the resultof episodic influxes of a great mass of people from China, often associated with political upheavals or economic cri-sis. It explains a population structure of95% Chinese. This structure is also reflected in the finding of genetic vari-ants in this population, which bears resemblance to neighbouring regions in China. For example, the thalassaemiasand lactose intolerance are common. However, the impact of migration from other parts of China cannot be neglec-ted, particulary for the last half century. This is evident from studies of glucose-6-phosphate dehydrogenase(G6PD) variants and other protein polymorphisms. The quick change in political situation has also promoted moreinflux of people from central and northern part of China. They bring with them a diversity of genetic constituent,mutations and diseases. However, as an international city, Hong Kong has significantinputfrommostethnic groupsin the world. Hence, the remaining 5% of its population is a heterogeneous group of minorities including Europe-ans, Indians, Japanese, and south-east Asians. Although their contribution to the cultural and economic growth inHong Kong is phenomenal, their impact on the genetic load is small. However, since their genetic makeup, andhence diseases, vary somewhatfromsouthern Chinese, they also poses specific needs to the provision of clinical ge-netic services.

关键词：遗传学医学遗传学服务香港中国发展

中国医学遗传综合项目基地——北京大学医学遗传中心(英文)

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北京大学学报（医学版） 2006年第1期38卷 6-7页

作者： Nanbert ZHONG 北京大学医学遗传中心

Medical genetics, as an important component in the advanced medical practice, has touched in variant aspectsof clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more andmore important roles in dealing with the public healthcare. Being a medical specialty performing diagnosis and in-tervention for genetic disorders, the medical genetics has bridged the clinical practice and basic medical *** is derived, butdifferent, fromhuman genetics. The difference of which is thatthe medical genetics provides clin-ical service for medical professionals and patients; however, the human genetics focuses on investigation of geneticprinciples.

关键词：遗传学医学遗传学服务教育北京大学医学遗传中心

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中国目前的遗传咨询(英文)

北京大学学报（医学版） 2006年第1期38卷 33-34页

作者：章远志 Nanbert ZHONG 北京大学医学遗传中心

In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: ge-netic counseling is a communication process which deals with the human problems associated with the occurrence orrisk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the deliveryof information about genetic diseases, including genetic risks, natural history of the disease, and clinical manage-ment of the disease, to patients and their families. Although genetic counseling is not a newword for both westerncountries and China, the development of which is quite different. Many excellent genetic counseling programs havebeen developed since then in developed countries, whereas there is no formal one in China. In the United States,professionals who carry outgenetic counseling musthave taken a professional training and have had the certificate ofAmerican Board of Genetic Counseling (ABGC) (***).

关键词：遗传咨询遗传学服务中国

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从历史的观点谈我国医学遗传学的出路

基础医学与临床 2008年第5期28卷 417-418页

作者：罗会元中国医学科学院北京协和医学院基础医学研究所北京100005

通过对医学遗传学的发展史进行回顾,可知医学遗传学是一门临床学科,临床遗传学是它的临床部分。它的飞速发展是由于基础学科与临床遗传工作的密切互动。不幸的是,在我国,临床遗传工作没有受到应有的重视。迄今,医学遗传学及其临床部分... 详细信息

通过对医学遗传学的发展史进行回顾,可知医学遗传学是一门临床学科,临床遗传学是它的临床部分。它的飞速发展是由于基础学科与临床遗传工作的密切互动。不幸的是,在我国,临床遗传工作没有受到应有的重视。迄今,医学遗传学及其临床部分还不是一门医学专业。这种情况与发达国家相距甚远。目前应立即确认医学遗传学及其临床部分是一门医学专业,并在有条件的大医院内,积极推动临床遗传学服务工作。

关键词：医学遗传学史临床遗传学基础医学遗传学服务医学专业