| Autor: |
Highsmith WE Jr; Department of Laboratory Medicine, North Carolina Memorial Hospital, Chapel Hill., Chong GL, Orr HT, Perry TR, Schald D, Farber R, Wagner K, Knowles MR, Warwick WJ, Silverman LM, et. al. |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical chemistry [Clin Chem] 1990 Oct; Vol. 36 (10), pp. 1741-6. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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