Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family

The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investig...

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Bibliographic Details
Published in:Journal of medical genetics 1993-02, Vol.30 (2), p.164-166
Main Authors: Curtis, A, Richardson, R J, Boohene, J, Jackson, A, Nelson, R, Bhattacharya, S S
Format: Article
Language:English
Subjects:
Asia - ethnology
Base Sequence
Biological and medical sciences
Consanguinity
cystic fibrosis
Cystic Fibrosis - epidemiology
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA - genetics
DNA Mutational Analysis
England - epidemiology
Exons
Female
Gastroenterology. Liver. Pancreas. Abdomen
Homozygote
Humans
India - ethnology
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
man
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
mutation
Other diseases. Semiology
Pakistan - ethnology
Pedigree
Point Mutation
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Summary:The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.30.2.164