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某些遗传性疾病的分布与控制

Distribution and control of some genetic disorders.

作者信息

Modell B, Bulyzhenkov V

机构信息

WHO Collaborating Centre for the Control of Haemoglobinopathies, London, United Kingdom.

出版信息

World Health Stat Q. 1988;41(3-4):209-18.

PMID:3232409
Abstract

The health burden of genetic disorders varies between ethnic groups within the same country or between countries to a large extent because of genotypic differences at the population level. Genetic services should recognize this variability in need and be developed within the traditional context of medical care. All practical approaches require a sound epidemiological basis and underline the importance of early diagnosis for both prevention and treatment. Effective control is now possible for some Mendelian conditions and some congenital malformations and should be incorporated into general health care. The development of genetic services within any country depends on the optimal utilization of available resources, both financial and intellectual.

摘要

由于人群水平上的基因型差异,遗传疾病的健康负担在同一国家内的不同种族群体之间或不同国家之间存在很大差异。遗传服务应认识到这种需求的变异性,并在传统医疗保健背景下加以发展。所有切实可行的方法都需要坚实的流行病学基础,并强调早期诊断对预防和治疗的重要性。现在对于一些孟德尔疾病和一些先天性畸形已经有可能进行有效控制,并且应将其纳入一般医疗保健之中。任何国家遗传服务的发展都取决于对现有资源(包括财政资源和智力资源)的优化利用。

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