scholarly journals Butyrylcholinesterase (BCHE) Genotyping for Post-Succinylcholine Apnea in an Australian Population

2003 ◽  
Vol 49 (8) ◽  
pp. 1297-1308 ◽  
Author(s):  
Tina Yen ◽  
Brian N Nightingale ◽  
Jennifer C Burns ◽  
David R Sullivan ◽  
Peter M Stewart
Keyword(s):  
Dna Sequencing ◽  
Gene Mutations ◽  
University Teaching ◽  
Sequencing Analysis ◽  
Direct Dna Sequencing ◽  
Bche Activity ◽  
Mutation Screen ◽  
Sequencing Studies ◽  
Dna Sequencing Analysis ◽  
K Variant

Abstract Background: Measurement of plasma butyrylcholinesterase (BChE) activity and inhibitor-based phenotyping are standard methods for identifying patients who experience post-succinylcholine (SC) apnea attributable to inherited variants of the BChE enzyme. Our aim was to develop PCR-based assays for BCHE mutation detection and implement them for routine diagnostic use at a university teaching hospital. Methods: Between 1999 and 2002, we genotyped 65 patients referred after prolonged post-SC apnea. Five BCHE gene mutations were analyzed. Competitive oligo-priming (COP)-PCR was used for flu-1, flu-2, and K-variant and direct DNA sequencing analysis for dibucaine and sil-1 mutations. Additional DNA sequencing of BCHE coding regions was provided when the five-mutation screen was negative or mutation findings were inconsistent with enzyme activity. Results: Genotyping identified 52 patients with primary hypocholinesterasemia attributable to BCHE mutations, and in 44 individuals the abnormalities were detected by the five-mutation screen (detection rate, 85%). Additional sequencing studies revealed mutations in eight other patients, including five with novel mutations. The most common genotype abnormality was compound homozygous dibucaine and homozygous K-variant mutations. No simple homozygotes were found. Of the remaining 13 patients, 3 had normal BChE activity and gene, and 10 were diagnosed with hypocholinesterasemia unrelated to BCHE gene abnormalities. Conclusion: A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients.

Human c-fms proto-oncogene: comparative analysis with an abnormal allele

1985 ◽  
Vol 5 (2) ◽  
pp. 422-426
Author(s):  
J S Verbeek ◽  
A J Roebroek ◽  
A M van den Ouweland ◽  
H P Bloemers ◽  
W J Van de Ven
Keyword(s):  
Comparative Analysis ◽  
Dna Sequencing ◽  
Sequencing Analysis ◽  
Base Pairs ◽  
Small Deletion ◽  
Viral Oncogene ◽  
Close Proximity ◽  
Genetic Sequences ◽  
Dna Sequencing Analysis

The organization of the human c-fms proto-oncogene has been determined and compared with an abnormal allele. The human v-fms homologous genetic sequences are dispersed discontinuously and colinearly with the viral oncogene over a DNA region of ca. 32 kilobase pairs. The abnormal c-fms locus contains a small deletion in its 3' portion. DNA sequencing analysis indicated that it was 426 base pairs in size and located in close proximity to a putative c-fms exon.

scholarly journals SPECTRUM OF BETA GLOBIN GENE MUTATIONS IN EGYPTIAN CHILDREN WITH β- THALASSEMIA

2014 ◽  
Vol 6 (1) ◽  
pp. e2014071 ◽  
Author(s):  
MR El-Shanshory ◽  
Adel Abd Elhaleim Hagag
Keyword(s):  
Dna Sequencing ◽  
Blood Count ◽  
Complete Blood Count ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Direct Dna Sequencing ◽  
Rare Mutations ◽  
Egyptian Children

Background: The molecular defects resulting in β-thalassemia phenotype, in the Egyptian population show a clear heterogenic mutations pattern. PCR based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis.The aim of the work: was to evaluate the different β-globin gene mutations in one hundred Egyptian children with β-thalassemia. Patients and Methods: One hundred of β-thalassemic Egyptian children, covering most Egyptian Governorates. All patients were subjected to meticulous history taking, clinical examinations, complete blood count, complete blood count, hemoglobin electrophoresis, serum ferritin and direct fluorescent DNA sequencing of β-globin gene to detect the frequency of different mutations in studied patients. Results: The most common mutations among patients were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A)19%,IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%, codon"Cd"39(C> T) 4%,-87(C>G) 3% and the rare mutations were: Cd37 (G>A), Cd8 (-AA), Cd29(-G), Cd5 (-CT), Cd6(-A), Cd8/9(+G), Cd 106/107(+G), Cd27(C>T), IVS II-16(G> C), Cd 28 (-C), Cap+1(A>C), -88(C>A), all of these rare mutations were present in 1%. There was considerable variation in phenotypic severity among patients resulting from interaction of different β° and β+mutations, 79(79%) patients were thalassemia major (TM) and 21(21%) were thassemia intermedia (TI), without genotype phenotype association. Conclusion: Direct DNA sequencing provides insights for the frequency of different mutations in β- thalassemic patients including rare and /or unknown ones.

scholarly journals Comparison of Angelica Species Roots Using Taste Sensor and DNA Sequencing Analysis

2012 ◽  
Vol 27 (6) ◽  
pp. 37-42 ◽  
Author(s):  
Young Hwa Kim ◽  
Goya Choi ◽  
Hye Won Lee ◽  
Gwan Ho Lee ◽  
Seong Wook Chae ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Sequencing Analysis ◽  
Dna Sequencing Analysis ◽  
Taste Sensor

Comparative View of In Silico DNA Sequencing Analysis Tools

2011 ◽  
pp. 207-221 ◽  
Author(s):  
Sissades Tongsima ◽  
Anunchai Assawamakin ◽  
Jittima Piriyapongsa ◽  
Philip J. Shaw
Keyword(s):  
Dna Sequencing ◽  
In Silico ◽  
Sequencing Analysis ◽  
Analysis Tools ◽  
Dna Sequencing Analysis

scholarly journals Evaluation of EGFR, KRAS and BRAF gene mutations in renal cell carcinoma

2014 ◽  
Vol 1 (4) ◽  
pp. 40-45 ◽  
Author(s):  
Omer Bayrak ◽  
Haluk Sen ◽  
Ersan Bulut ◽  
Beyhan Cengiz ◽  
Metin Karakok ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Melting Curve ◽  
Gene Mutations ◽  
Poor Response ◽  
Renal Tumors ◽  
Sequencing Analysis ◽  
Braf Mutations ◽  
Dna Sequencing Analysis

A subset of renal cell carcinoma (RCC) patients has been shown to respond to anti-EGFR therapy. As KRAS and BRAF mutations are associated with poor response to anti-EGFR therapy in some cancers, it has been suggested that screening for KRAS and BRAF mutations in RCC may be a promising strategy to identify patients who might respond to EGFR-targeted therapy. The aim of this study was to investigate the mutation status of EGFR, KRAS and BRAF in RCC patients. Renal tumors and normal renal samples from forty-eight patients who underwent radical or partial nephrectomy for kidney cancer were used in this study. Histological classification of the tumors was performed according to International Union against Cancer (UICC) / American Joint Committee on Cancer (AJCC) classification. Seventeen patients (48%) had clear-cell RCC, 7 (20%) had chromophobe RCC, and 11 patients (32%) had papillary RCC. DNA isolated from the samples was subjected to melting curve mutation analysis for EGFR, BRAF and KRAS using ABI-3130 DNA sequencer. DNA sequencing analysis of RCC samples, when compared with morphologically normal matched regions, did not show any exon mutations. Our results do not support the notion that EGFR, KRAS and BRAF might be mutated in RCC.

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