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Gene Mapping in Cystic Fibrosis and Its Clinical Applications
Author(s) -
WILLIAMSON ROBERT
Publication year - 1989
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.1989.78.s363.7
Subject(s) - cystic fibrosis , medicine , prenatal diagnosis , gene , isolation (microbiology) , chromosome , mutation , genetics , pathology , bioinformatics , biology , fetus , pregnancy
Current techniques in molecular genetics have permitted the localisation of the mutation causing cystic fibrosis to chromosome 7q31, and allowed isolation of very tightly linked markers. It is possible to offer early prenatal diagnosis, carrier testing, and alteration of risk of unaffected partners in most cases. However, community‐wide definitive carrier testing and new methods of treatment await the isolation of the gene.