Identification of the cystic fibrosis gene: genetic analysis

B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

Identification of the cystic fibrosis gene: chromosome walking and jumping

JM Rommens, MC Iannuzzi, B Kerem, ML Drumm… - Science, 1989 - science.org
An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …

Cystic fibrosis associated islet changes may provide a basis for diabetes: an immunocytochemical and morphometrical study

M Löhr, P Goertchen, H Nizze, NS Gould, VE Gould… - Virchows Archiv A, 1989 - Springer
The pancreases of 23 patients (mean age 10.5 years, range 5-22) years dying of cystic
fibrosis (CF) were evaluated at autopsy by routine histology and immunostaining for …

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

BS Kerem, JA Buchanan, P Durie… - American journal of …, 1989 - ncbi.nlm.nih.gov
Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease,
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …

Report of the committee on the genetic constitution of chromosomes 7 and 8

LC Tsui, M Farrall, H Donis-Keller - Cytogenetic and Genome Research, 1989 - karger.com
L.-C. Tsui M. Farrall H. Donis-Keller CHROMOSOME 7 There are a total of 94 gene loci, 410
DNA segments and 10 fragile sites listed on this chromosome at HGM10. Of these, 9 are …

Linkage disequilibrium, cystic fibrosis, and genetic counseling.

AL Beaudet, GL Feldman, SD Fernbach… - American journal of …, 1989 - ncbi.nlm.nih.gov
Strong linkage disequilibrium occurs between the cystic fibrosis (CF) locus and
polymorphisms detected with the DNA probes XV-2c and KM-19. In a North American …

Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybrid

DR Cox, CA Pritchard, E Uglum, D Casher, J Kobori… - Genomics, 1989 - Elsevier
We have developed an X-irradiation: cell fusion procedure that segregates segments of
human chromosomes lacking selectable markers and have used this approach to construct …

A genetic linkage map of the long arm of human chromosome 22

GA Rouleau, JL Haines, A Bazanowski… - Genomics, 1989 - Elsevier
We have used a recombinant phage library enriched for chromosome 22 sequences to
isolate and characterize eight anonymous DNA probes detecting restriction fragment length …

The ocular surface in cystic fibrosis

JD Sheppard, DM Orenstein, CC Chao, S Butala… - Ophthalmology, 1989 - Elsevier
Seventeen patients with cystic fibrosis and 17 age-, race-, and sex-matched controls were
examined under standardized conditions. Testing included slit-lamp biomicroscopy …

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple …

GR Cutting, SE Antonarakis, KH Buetow… - American journal of …, 1989 - ncbi.nlm.nih.gov
Strong linkage disequilibrium (LD) was found between DNA marker XV2c and the cystic
fibrosis (CF) locus (delta= 0.46) and between DNA marker KM19 and CF (delta= 0.67) in …