Frequency of the ΔPhe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study

W. E. Highsmith, G. L. Chong, H. T. Orr, T. R. Perry, D. Schaid, R. Farber, K. Wagner, M. R. Knowles, W. J. Warwick, L. M. Silverman, S. N. Thibodeau

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affected chromosomes. We then used this value to calculate the predictive value of a negative test result in a population-based screening program for CF carrier status. Haplotype analysis with the polymorphic markers XV.2c and KM-19 on 239 CF chromosomes revealed that 90.7% of CF chromosomes with the deletion had a single haplotype. This haplotype was also associated with 60.4% of CF chromosomes with unknown mutations. These values can be used to calculate the probability of whether an individual from the general population is a carrier of any CF mutation.

Original languageEnglish (US)
Pages (from-to)1741-1746
Number of pages6
JournalClinical chemistry
Volume36
Issue number10
StatePublished - Nov 23 1990

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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    Highsmith, W. E., Chong, G. L., Orr, H. T., Perry, T. R., Schaid, D., Farber, R., Wagner, K., Knowles, M. R., Warwick, W. J., Silverman, L. M., & Thibodeau, S. N. (1990). Frequency of the ΔPhe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study. Clinical chemistry, 36(10), 1741-1746.