Literature DB >> 1990834

Two frameshift mutations in the cystic fibrosis gene.

M C Iannuzzi1, R C Stern, F S Collins, C T Hon, N Hidaka, T Strong, L Becker, M L Drumm, M B White, B Gerrard.   

Abstract

Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.

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Year:  1991        PMID： 1990834      PMCID： PMC1683026     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.

Authors:  W K Lemna; G L Feldman; B Kerem; S D Fernbach; E P Zevkovich; W E O'Brien; J R Riordan; F S Collins; L C Tsui; A L Beaudet
Journal:  N Engl J Med       Date:  1990-02-01       Impact factor: 91.245

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Authors:  M Orita; H Iwahana; H Kanazawa; K Hayashi; T Sekiya
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

5.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

6.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

7.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

8.  A frame-shift mutation in the cystic fibrosis gene.

Authors:  M B White; J Amos; J M Hsu; B Gerrard; P Finn; M Dean
Journal:  Nature       Date:  1990-04-12       Impact factor: 49.962

9.  Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Authors:  M Dean; M B White; J Amos; B Gerrard; C Stewart; K T Khaw; M Leppert
Journal:  Cell       Date:  1990-06-01       Impact factor: 41.582

10.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
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  7 in total

1.  Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Authors:  L Osborne; G Santis; M Schwarz; K Klinger; T Dörk; I McIntosh; M Schwartz; V Nunes; M Macek; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors:  M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

3.  Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia.

Authors:  H Iwahana; K Yoshimoto; T Shigekiyo; A Shirakami; S Saito; M Itakura
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

4.  Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Authors:  T Shoshani; A Augarten; E Gazit; N Bashan; Y Yahav; Y Rivlin; A Tal; H Seret; L Yaar; E Kerem
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

5.  Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Authors:  G R Cutting; S M Curristin; E Nash; B J Rosenstein; I Lerer; D Abeliovich; A Hill; C Graham
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

6.  Search for potential reading frameshifts in cds from Arabidopsis thaliana and other genomes.

Authors:  Y M Suvorova; M A Korotkova; K G Skryabin; E V Korotkov
Journal:  DNA Res       Date:  2019-04-01       Impact factor: 4.458

7.  Detection and characterization of small insertion and deletion genetic variants in modern layer chicken genomes.

Authors:  Clarissa Boschiero; Almas A Gheyas; Hannah K Ralph; Lel Eory; Bob Paton; Richard Kuo; Janet Fulton; Rudolf Preisinger; Pete Kaiser; David W Burt
Journal:  BMC Genomics       Date:  2015-07-31       Impact factor: 3.969
  7 in total

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