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Clinical Pediatrics
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*Cystic Fibrosis
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The Detection of the Heterozygote and Homozygote in Cystic Fibrosis by Short Term Lymphocyte Culture Studies: A Defect in RNA Methylation

Owen M. Rennert

Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32601

Jaime L. Frias

Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32601, Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32601

Richard L. Julius

Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32601

David Lapointe

Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32601

A method is here described for the study of RNA methyla tion in short-term lymphocyte cultures. Results from CF heterozygotes and homozygotes as well as normals suggest that undermyethylation of RNA occurs in both heterozygotes and homozygotes for the cystic fibrosis gene, and that this occurrence reflects the basic defect in this disorder.

Clinical Pediatrics, Vol. 11, No. 6, 351-352 (1972)
DOI: 10.1177/000992287201100609
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