Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
Open Access
- 1 February 1993
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (2) , 164-166
- https://doi.org/10.1136/jmg.30.2.164
Abstract
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.Keywords
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