Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene


The basic gene defect in the autosomal recessive disorder cystic fibrosis has not been identified, and no firm linkage of the disorder to any other marker has been reported. However, a serum protein abnormality present in unaffected heterozygotes as well as in affected homozygotes has been described1, and immunological quantitation of this protein, termed cystic fibrosis antigen, allows the three genotypes to be distinguished2,3. We show here that an immunologically indistinguishable protein is present at high concentrations in granulocytes from normal and cystic fibrosis individuals as well as in myeloid leukaemia cells. Somatic cell hybrids between the mouse myeloid stem-cell line WEHI-TG and myeloid leukaemia cells express cystic fibrosis antigen only when human chromosome 1 is present.

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van Heyningen, V., Hayward, C., Fletcher, J. et al. Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene. Nature 315, 513–515 (1985). https://doi.org/10.1038/315513a0

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