Literature DB >> 1464143

New possibilities for population control of cystic fibrosis.

J A Dodge1, V Boulyjenkov.   

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.

Entities:  

Mesh:

Year:  1992        PMID: 1464143      PMCID: PMC2393358     

Source DB:  PubMed          Journal:  Bull World Health Organ        ISSN: 0042-9686            Impact factor:   9.408


  5 in total

1.  Cystic fibrosis pilot projects go begging.

Authors:  L Roberts
Journal:  Science       Date:  1990-11-23       Impact factor: 47.728

2.  The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Authors:  E Kerem; M Corey; B S Kerem; J Rommens; D Markiewicz; H Levison; L C Tsui; P Durie
Journal:  N Engl J Med       Date:  1990-11-29       Impact factor: 91.245

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis.

Authors:  M R Knowles; N L Church; W E Waltner; J R Yankaskas; P Gilligan; M King; L J Edwards; R W Helms; R C Boucher
Journal:  N Engl J Med       Date:  1990-04-26       Impact factor: 91.245

5.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

  5 in total
  2 in total

1.  Cystic fibrosis carrier population screening in the primary care setting.

Authors:  S Loader; P Caldwell; A Kozyra; J C Levenkron; C D Boehm; H H Kazazian; P T Rowley
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Costs, effects, and savings of screening for cystic fibrosis gene carriers.

Authors:  M F Wildhagen; H B Hilderink; J G Verzijl; J B Verheij; L Kooij; T Tijmstra; L P ten Kate; J D Habbema
Journal:  J Epidemiol Community Health       Date:  1998-07       Impact factor: 3.710

  2 in total

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