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相似文献

1
New possibilities for population control of cystic fibrosis.囊性纤维化人群控制的新可能性。
Bull World Health Organ. 1992;70(5):561-6.
2
Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.对囊性纤维化携带者进行全社区筛查可替代新生儿筛查来诊断囊性纤维化。
J Paediatr Child Health. 2007 Nov;43(11):721-3. doi: 10.1111/j.1440-1754.2007.01224.x.
3
Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.维多利亚州基于人群的囊性纤维化携带者筛查:头三年的经验。
Aust N Z J Obstet Gynaecol. 2009 Oct;49(5):484-9. doi: 10.1111/j.1479-828X.2009.01045.x.
4
Carrier screening for cystic fibrosis.囊性纤维化携带者筛查。
Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents. doi: 10.1016/j.ogc.2010.02.002.
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Feasibility study of community control programmes for cystic fibrosis: memorandum from a WHO/ICF(M)A meeting.囊性纤维化社区控制项目可行性研究:世界卫生组织/国际囊性纤维化协会(M)会议纪要
Bull World Health Organ. 1990;68(6):709-15.
6
Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.囊性纤维化新生儿筛查能否检测出非典型囊性纤维化形式?扩展基因特征分析及4年临床随访
Clin Genet. 2007 Jul;72(1):39-46. doi: 10.1111/j.1399-0004.2007.00825.x.
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.R117H 突变致囊性纤维化极低外显率:对遗传咨询和新生儿筛查的再评估。
J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29.
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A 10-year large-scale cystic fibrosis carrier screening in the Italian population.意大利人群中一项长达 10 年的大型囊性纤维化携带者筛查。
J Cyst Fibros. 2010 Jan;9(1):29-35. doi: 10.1016/j.jcf.2009.10.003. Epub 2009 Nov 7.
9
Cystic fibrosis screening strategies.囊性纤维化筛查策略。
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10
Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening.父母对于通过新生儿筛查将其婴儿鉴定为囊性纤维化携带者的态度。
J Paediatr Child Health. 2006 Sep;42(9):533-7. doi: 10.1111/j.1440-1754.2006.00917.x.

引用本文的文献

1
Costs, effects, and savings of screening for cystic fibrosis gene carriers.囊性纤维化基因携带者筛查的成本、效果及节省情况。
J Epidemiol Community Health. 1998 Jul;52(7):459-67. doi: 10.1136/jech.52.7.459.
2
Cystic fibrosis carrier population screening in the primary care setting.基层医疗环境中的囊性纤维化携带者群体筛查。
Am J Hum Genet. 1996 Jul;59(1):234-47.

本文引用的文献

1
Identification of the cystic fibrosis gene: chromosome walking and jumping.囊性纤维化基因的鉴定:染色体步移与跳跃
Science. 1989 Sep 8;245(4922):1059-65. doi: 10.1126/science.2772657.
2
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定:遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
3
Cystic fibrosis pilot projects go begging.囊性纤维化试点项目无人问津。
Science. 1990 Nov 23;250(4984):1076-7. doi: 10.1126/science.2251497.
4
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).囊性纤维化中基因型与表型的关系——最常见突变(ΔF508)的分析
N Engl J Med. 1990 Nov 29;323(22):1517-22. doi: 10.1056/NEJM199011293232203.
5
A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis.雾化阿米洛利治疗囊性纤维化肺部疾病的一项试点研究。
N Engl J Med. 1990 Apr 26;322(17):1189-94. doi: 10.1056/NEJM199004263221704.

囊性纤维化人群控制的新可能性。

New possibilities for population control of cystic fibrosis.

作者信息

Dodge J A, Boulyjenkov V

机构信息

Child Health Nuffield Department of Child Health, Queen's University of Belfast, United Kingdom.

出版信息

Bull World Health Organ. 1992;70(5):561-6.

PMID:1464143
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2393358/
Abstract

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.

摘要

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。