Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 36: 1741-1746, 1990;
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Highsmith, W. E.
Right arrow Articles by Silverman, L. M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Highsmith, W. E., Jr
Right arrow Articles by Silverman, L. M.

Clinical Chemistry, Vol 36, 1741-1746, Copyright © 1990 by American Association for Clinical Chemistry

Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study

WE Highsmith Jr, GL Chong, HT Orr, TR Perry, D Schald, R Farber, K Wagner, MR Knowles, WJ Warwick and LM Silverman
Department of Laboratory Medicine, North Carolina Memorial Hospital, Chapel Hill.

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.


The following articles in journals at HighWire Press have cited this article:


Home page
 Hum ReprodHome page
N. Sharma, N. Acharya, S.K. Singh, M. Singh, U. Sharma, and R. Prasad
Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens
Hum. Reprod., May 1, 2009; 24(5): 1229 - 1236.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
R. D. Hockett, S. C. Kirkwood, B. H. Mitlak, and W. H. Dere
Pharmacogenomics in Endocrinology
J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2495 - 2499.
[Full Text] [PDF]

Home page
 Am. J. Respir. Crit. Care Med.Home page
P. G. NOONE, C. A. PUE, Z. ZHOU, K. J. FRIEDMAN, E. L. WAKELING, M. GANESHANANTHAN, R. H. SIMON, L. M. SILVERMAN, and M. R. KNOWLES
Lung Disease Associated with the IVS8 5T Allele of the CFTR Gene
Am. J. Respir. Crit. Care Med., November 1, 2000; 162(5): 1919 - 1924.
[Abstract] [Full Text]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1990 by the American Association for Clinical Chemistry.