Dodge J A, Boulyjenkov V
Child Health Nuffield Department of Child Health, Queen's University of Belfast, United Kingdom.
Bull World Health Organ. 1992;70(5):561-6.
Cystic fibrosis (CF), which is caused exclusively by mutation of a single gene, is inherited in autosomal recessive fashion and is the commonest such disorder in populations of Caucasian origin. Although much progress has been made during the last 50 years in its clinical management, with a corresponding improvement in the mean life expectancy in developed countries from a few months to a few decades, it remains incurable and a complete understanding of its biochemical basis is still being sought. Consequently, attention has been given to the possibility of screening for carriers of the defective gene, who represent up to 5% in some populations, so that they may be given appropriate genetic counselling. Whereas previously carriers were identified only when they became parents of affected children, in recent years carriers who were more distantly related to CF patients have often been identified by means of genetic linkage techniques. A new strategy for the control of CF at the population level is now proposed. It is based on the report of a joint WHO/ICF(M)A (International Cystic Fibrosis (Mucoviscidosis) Association) Task Force on CF which met in November 1990.
囊性纤维化(CF)完全由单个基因突变引起,以常染色体隐性方式遗传,是白种人起源人群中最常见的此类疾病。尽管在过去50年里其临床管理取得了很大进展,发达国家的平均预期寿命相应地从几个月提高到了几十年,但它仍然无法治愈,人们仍在寻求对其生化基础的全面理解。因此,人们关注对缺陷基因携带者进行筛查的可能性,在某些人群中携带者比例高达5%,以便为他们提供适当的遗传咨询。以前只有当携带者成为患病孩子的父母时才能被识别出来,近年来,通过基因连锁技术,常常能识别出与CF患者关系更远的携带者。现在提出了一项在人群层面控制CF的新策略。它基于1990年11月召开会议的世界卫生组织/国际囊性纤维化(黏液黏稠病)协会(WHO/ICF(M)A)联合特别工作组的报告。