scholarly journals Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s)

1992 ◽  
Vol 20 (3) ◽  
pp. 573-579 ◽  
Author(s):  
Peter V. Danenberg ◽  
Tetsuro Horikoshi ◽  
Matthias Volkenandt ◽  
Kathleen Danenberg ◽  
Heinz-Josef Lenz ◽  
...  
Keyword(s):  
Point Mutations ◽  
Rna Conformation ◽  
Human Dna ◽  
Conformation Polymorphism

Double- and single-strand conformation polymorphism analysis of point mutations and short tandem repeats

1994 ◽  
Vol 15 (1) ◽  
pp. 566-571 ◽  
Author(s):  
Francisco Barros ◽  
Ignacio Muñoz-Barús ◽  
Maria V. Lareu ◽  
Maria S. Rodriguez-Calvo ◽  
Angel Carracedo
Keyword(s):  
Short Tandem Repeats ◽  
Tandem Repeats ◽  
Point Mutations ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Polymorphism Analysis ◽  
Conformation Polymorphism Analysis ◽  
Conformation Polymorphism ◽  
Short Tandem

scholarly journals A Case of Manifesting Carrier with DMD Phenotype

2009 ◽  
Vol 52 (4) ◽  
pp. 167-170 ◽  
Author(s):  
Akshay Anand ◽  
Monika Vinish ◽  
Sudesh Prabhakar
Keyword(s):  
Polymerase Chain Reaction ◽  
Direct Sequencing ◽  
Point Mutations ◽  
Single Strand Conformation Polymorphism ◽  
Clinical Findings ◽  
Lower Limbs ◽  
Chain Reaction ◽  
History Of ◽  
Polymerase Chain ◽  
Conformation Polymorphism

A case of a 35-year old female with a history of proximal weakness in lower limbs and bulkiness of both calves manifesting before ten years of age was reported. Clinical findings were suggestive of muscular dystrophy. Genetic analysis using polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and direct sequencing revealed several point mutations, which account for dystrophin dysfunction and DMD type pathogenesis.

scholarly journals Detection of gyrA Mutations among 335Pseudomonas aeruginosa Strains Isolated in Japan and Their Susceptibilities to Fluoroquinolones

1999 ◽  
Vol 43 (2) ◽  
pp. 406-409 ◽  
Author(s):  
Takashi Takenouchi ◽  
Eiko Sakagawa ◽  
Mie Sugawara
Keyword(s):  
Double Point ◽  
Direct Sequencing ◽  
Point Mutations ◽  
Single Strand Conformation Polymorphism ◽  
Fluoroquinolone Resistance ◽  
Polymorphism Analysis ◽  
Novel Mutations ◽  
Conformation Polymorphism Analysis ◽  
High Level ◽  
Conformation Polymorphism

ABSTRACT gyrA point mutations in 335 clinical Pseudomonas aeruginosa isolates were examined mainly by nonisotopic single-strand conformation polymorphism analysis and direct sequencing. Seven types of missense gyrA mutations were observed in 70 of 335 strains (20.9%), and ciprofloxacin MICs were ≥3.13 μg/ml for 63 of 70 strains (90.0%). These included two double point mutations and three novel mutations (Ala-67→Ser plus Asp-87→Gly, Ala-84→Pro, and Gln-106→Leu). Thr-83→Ile mutants were predominantly observed (63 of 70 mutants) and showed high-level fluoroquinolone resistance (ciprofloxacin MIC at which 50% of isolates are inhibited, 25 μg/ml).

scholarly journals Molecular screening of patients with long standing extensive ulcerative colitis: detection of p53 and Ki-ras mutations by single strand conformation polymorphism analysis and differential hybridisation in colonic lavage fluid

Gut ◽  
1999 ◽  
Vol 44 (6) ◽  
pp. 822-825 ◽  
Author(s):  
S M Lang ◽  
D F Stratakis ◽  
M Heinzlmann ◽  
W Heldwein ◽  
B Wiebecke ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Point Mutations ◽  
P53 Gene ◽  
Lavage Fluid ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Polymorphism Analysis ◽  
Wild Type ◽  
Conformation Polymorphism Analysis ◽  
Conformation Polymorphism

BACKGROUNDIn patients with long standing ulcerative colitis at risk of developing malignancy, mutations of the p53 and Ki-ras gene were investigated in lavage solution obtained at surveillance colonoscopy.METHODSDNA was isolated from 31 consecutive patients with total or subtotal ulcerative colitis and a disease duration of between seven and 26 years. Twenty seven control patients showed no macroscopic or microscopic inflammation on colonoscopy. Exons 5–8 of the p53 gene and exon 1 of the Ki-ras gene were amplified by polymerase chain reaction. Mutations of the p53 gene were detected by single strand conformation polymorphism analysis. Point mutations of the Ki-ras gene were hybridised on dot blots with oligonucleotides marked with digoxigenin.RESULTSIn all cases of ulcerative colitis and in all of the 27 control patients, wild type p53 and wild type Ki-ras could be detected. In four patients with ulcerative colitis, a mutation in exon 5 to 7 of the p53 gene was found, and two patients had a mutation of the Ki-ras gene (Gly to Asp-12, Gly to Val-12). None of these patients had dysplasia in serial biopsy specimens, and all but one had had the disease for more than 10 years. One control patient had a mutation.CONCLUSIONSMutations were more frequent in patients with long standing ulcerative colitis (19%) than in control patients (3%, p = 0.07). The technique may be useful for screening for early malignancy in ulcerative colitis.

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