Evaluation of the genetic variability of orchid fleck virus by single-strand conformational polymorphism analysis and nucleotide sequencing of a fragment from the nucleocapsid gene

2009 ◽  
Vol 154 (6) ◽  
pp. 1009-1014 ◽  
Author(s):  
Karen Sumire Kubo ◽  
R. M. Stuart ◽  
J. Freitas-Astúa ◽  
R. Antonioli-Luizon ◽  
E. C. Locali-Fabris ◽  
...  
Keyword(s):  
Genetic Variability ◽  
Single Strand ◽  
Nucleotide Sequencing ◽  
Polymorphism Analysis ◽  
Single Strand Conformational Polymorphism ◽  
Conformational Polymorphism ◽  
Orchid Fleck Virus ◽  
Nucleocapsid Gene

Genetic Characterization of Protein C Deficiency in Japanese Subjects Using a Rapid and Nonradioactive Method for Single-Strand Conformational Polymorphism Analysis and a Model Building

1996 ◽  
Vol 76 (03) ◽  
pp. 302-311 ◽  
Author(s):  
Toshiyuki Miyata ◽  
Toshiyuki Sakata ◽  
Yan-Zhen Zheng ◽  
Hiroaki Tsukamoto ◽  
Hideaki Umeyama ◽  
...  
Keyword(s):  
Protein C ◽  
Single Strand ◽  
Sscp Analysis ◽  
Polymorphism Analysis ◽  
Type I ◽  
Protein C Deficiency ◽  
Single Strand Conformational Polymorphism ◽  
Conformational Polymorphism ◽  
Molecular Defects ◽  
Japanese Subjects

SummaryWe studied the molecular basis of protein C deficiency in 28 Japanese families including 4 asymptomatic families. Two showed a decreased level of function with a normal antigen concentration consistent with type II protein C deficiency and the remaining 26 showed type I deficiency with decreases in both function and antigen level. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining polymerase chain reaction (PCR) amplification and rapid nonradioactive single-strand conformational polymorphism (SSCP) analysis. The PCR-amplified fragments with aberrant migration on SSCP analysis were sequenced. We identified 11 missense mutations, 1 nonsense mutation, 2 neutral polymorphisms, 1 frameshift deletion, 1 inframe deletion, and 1 splice site mutation. We also identified two different rare mutations in the 5-untranslated region in the protein C gene that may be responsible for the phenotype. Of these molecular defects, ten were novel. From the results of genetic analysis of 47 Japanese families with protein C deficiency reported in this and previous studies, Phel39Val and Met364Ile substitutions and a G8857 deletion were only found in Japanese subjects and seem to be a founder effect. In contrast, Argl69Trp and Val297Met substitutions, both occurring at CG dinucleotides, were commonly observed in not only Japanese but also Western populations, indicating that these are hot spots for mutation in the protein C gene. These molecular defects were found in 22 families in total, accounting for 47% of Japanese families with protein C deficiency. The structural models of the second EGF and protease domains of activated wild-type and mutant human protein C suggest a possible substrate binding exosite on two loops; one from amino acid position 349 to 357 and the other from position 385 to 388, both of which are close to each other in the three-dimensional model.

Single-strand conformational polymorphism analysis of human GLUT5 in isolated fructose malabsorption

1995 ◽  
Vol 108 (4) ◽  
pp. A337
Author(s):  
D. Wasserman ◽  
J.H. Hoekstra ◽  
V. Tolia ◽  
B.S. Kirschner ◽  
R.A. Taub ◽  
...  
Keyword(s):  
Single Strand ◽  
Polymorphism Analysis ◽  
Single Strand Conformational Polymorphism ◽  
Conformational Polymorphism ◽  
Fructose Malabsorption

Identification by single-strand conformational polymorphism analysis of known and new mutations of the CYP3A5 gene in a French population

2006 ◽  
Vol 164 (2) ◽  
pp. 177-184 ◽  
Author(s):  
Sylvie Quaranta ◽  
Dany Chevalier ◽  
Véronique Bourgarel-Rey ◽  
Delphine Allorge ◽  
Caroline Solas ◽  
...  
Keyword(s):  
Single Strand ◽  
Polymorphism Analysis ◽  
French Population ◽  
Single Strand Conformational Polymorphism ◽  
Conformational Polymorphism ◽  
Cyp3a5 Gene ◽  
New Mutations
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