Characterization of Visible Dyes for Four-Decay Fluorescence Detection in DNA Sequencing

1997 ◽  
Vol 69 (13) ◽  
pp. 2392-2397 ◽  
Author(s):  
Brian K. Nunnally ◽  
Hui He ◽  
Liang-Chi Li ◽  
Sheryl A. Tucker ◽  
Linda B. McGown
2014 ◽  
Vol 6 (1) ◽  
pp. e2014071 ◽  
Author(s):  
MR El-Shanshory ◽  
Adel Abd Elhaleim Hagag

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.


RSC Advances ◽  
2020 ◽  
Vol 10 (57) ◽  
pp. 34943-34952
Author(s):  
Bin Zhu ◽  
Guimei Huang ◽  
Yanni He ◽  
Jisheng Xie ◽  
Tao He ◽  
...  

In this work, four novel MOFs [Cd(bipa)]n (1), {[Zn2(bipa)2]·2C2H5OH}n (2), {[Co(bipa)]·C2H5OH}n (3), {[Ni(bipa)2]·2DMA}n (4), (H2bipa = 5-(benzimidazole-1-yl)isophthalic acid) were successfully synthesized under solvothermal conditions.


2014 ◽  
Vol 5 (5) ◽  
pp. 1680-1697 ◽  
Author(s):  
Monique J. Jacobs ◽  
Kerstin Blank

Combining single molecule force measurements with fluorescence detection opens up exciting new possibilities for the characterization of mechanoresponsive molecules in Biology and Materials Science.


Hemoglobin ◽  
1999 ◽  
Vol 23 (1) ◽  
pp. 73-77 ◽  
Author(s):  
P. Lacan ◽  
M. Aubry ◽  
A. Francina ◽  
N. Couprie ◽  
L. Dementhon ◽  
...  

2014 ◽  
Vol 13 (1) ◽  
pp. 1304-1313 ◽  
Author(s):  
C.S. Kodama ◽  
S. Cuadros-Orellana ◽  
C.H.M.M. Bandeira ◽  
D.A. Graças ◽  
A.S. Santos ◽  
...  

2005 ◽  
Vol 102 (15) ◽  
pp. 5346-5351 ◽  
Author(s):  
E. K. Lewis ◽  
W. C. Haaland ◽  
F. Nguyen ◽  
D. A. Heller ◽  
M. J. Allen ◽  
...  

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