Literature DB >> 2210763

Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.

M J Schwarz1, M Super, C Wallis, P Beighton, C Newton, L E Heptinstall, C Summers, A Markham, G Hambleton, K W Webb.   

Abstract

Details of haplotype and delta F508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical status. Clinical details and DNA analyses from native English in the North-West and South-West of England (Bath), from Lancashire Pakistani families and from Afrikaans Namibian families are compared. A 78.5% incidence of delta F508 has been found in English families. Compound heterozygotes with CF and only one delta F508 gene have an increased likelihood of having milder disease, with less Pseudomonas isolated from sputum and relatively more showing either no regular respiratory pathogens or colonisation with Staphylococcus. There is also a relative increase in meconium ileus in these compound heterozygotes. The diagnosis of CF may be in doubt in some subjects negative for delta F508. Some of the Bath families have unusual haplotypes for an English population and a compound heterozygote delta F508/delta I507 has been found. There is evidence from metD analysis of the founder effect in the Afrikaans Namibian families, who have a high delta F508 incidence.

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Year:  1990        PMID: 2210763     DOI: 10.1007/bf02428298

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


  8 in total

1.  Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.

Authors:  M Super; M J Schwarz
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

Review 2.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

3.  Screening for the major cystic fibrosis mutation in non-Caucasian populations.

Authors:  M Devoto; S Castagnola; N Saha; C Chetsanga; M Allen; U Gyllensten; G Romeo
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

4.  Molecular basis of cystic fibrosis disease: an Indian perspective.

Authors:  R Prasad; H Sharma; G Kaur
Journal:  Indian J Clin Biochem       Date:  2010-11-19

5.  The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.

Authors:  M Mei-Zahav; P Durie; J Zielenski; M Solomon; E Tullis; L-C Tsui; M Corey
Journal:  Arch Dis Child       Date:  2005-07       Impact factor: 3.791

6.  Cystic fibrosis in Asians.

Authors:  I M Bowler; E J Estlin; J M Littlewood
Journal:  Arch Dis Child       Date:  1993-01       Impact factor: 3.791

7.  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

8.  Active cascade testing for carriers of cystic fibrosis gene.

Authors:  M Super; M J Schwarz; G Malone; T Roberts; A Haworth; G Dermody
Journal:  BMJ       Date:  1994-06-04
  8 in total

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