Literature DB >> 2210766

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families.

E K Watson1, E S Mayall, L Simova, E M Thompson, J O Warner, R Williamson, C Williams.   

Abstract

Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome.

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Year:  1990        PMID: 2210766     DOI: 10.1007/bf02428303

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  2 in total

1.  Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic.

Authors:  E K Watson; J Marchant; A Bush; B Williamson
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Authors:  T Casals; C Vázquez; C Lázaro; E Girbau; F J Giménez; X Estivill
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

  2 in total

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