A Simple DNA Chip for Diagnosis of Most Common Corneal Dystrophies Caused by ßigh3 Gene Mutations

2007 ◽  
Author(s):  
So Young Yoo ◽  
Tae-im Kim ◽  
Sang Yup Lee ◽  
Eng Kweon Kim ◽  
Ki Chang Keum ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Dna Chip ◽  
Corneal Dystrophies

TGFBI gene mutations in corneal dystrophies

2006 ◽  
Vol 27 (7) ◽  
pp. 615-625 ◽  
Author(s):  
Chitra Kannabiran ◽  
Gordon K. Klintworth
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

2000 ◽  
Vol 130 (4) ◽  
pp. 516-517 ◽  
Author(s):  
Yukihiko Mashima ◽  
Shuji Yamamoto ◽  
Yoshitsugu Inoue ◽  
Masakazu Yamada ◽  
Minako Konishi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies

scholarly journals Study of TGFBI gene mutations in Ukrainian patients with corneal dystrophies

2008 ◽  
Vol 24 (1) ◽  
pp. 60-68
Author(s):  
V. M. Pampukha ◽  
G. I. Drozhyna ◽  
L. A. Livshits
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

scholarly journals Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the  igh3 gene

2007 ◽  
Vol 91 (6) ◽  
pp. 722-727 ◽  
Author(s):  
S. Y. Yoo ◽  
T.-I. Kim ◽  
S. Y. Lee ◽  
E. K. Kim ◽  
K. C. Keum ◽  
...  
Keyword(s):  
Dna Chip ◽  
Corneal Dystrophies

scholarly journals TGFBI gene mutations analysis in Chinese families with corneal dystrophies

2017 ◽  
Vol 15 (5) ◽  
pp. 3198-3202
Author(s):  
Xiaojuan Wang ◽  
Ming Ying ◽  
Changbo Fu ◽  
Yuchuan Wang ◽  
Ningdong Li
Keyword(s):  
Gene Mutations ◽  
Chinese Families ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

scholarly journals K-ras Mutation Detection by Hybridization to a Polypyrrole DNA Chip

2001 ◽  
Vol 47 (2) ◽  
pp. 186-194 ◽  
Author(s):  
Evelyne Lopez-Crapez ◽  
Thierry Livache ◽  
Joseph Marchand ◽  
Jean Grenier
Keyword(s):  
Gene Mutations ◽  
Dna Chip ◽  
Basic Knowledge ◽  
Ras Gene ◽  
Direct Dna Sequencing ◽  
Genotype Assignment ◽  
Chip Technology ◽  
Detection Of Mutations ◽  
Colorectal Cancer Patients ◽  
Silicon Device

Abstract Background: Detection of mutations in cancer-related genes is of major importance for both basic knowledge and clinical practice. Several strategies have been developed to diagnose these alterations. We describe a method based on polypyrrole DNA chip technology to detect K-ras gene mutations in tumors. Methods: An oligodeoxynucleotide array was constructed on a silicon device by copolymerization of 5′-pyrrole-labeled oligodeoxynucleotides and pyrrole. The samples to be analyzed were then amplified by PCR, and the single-stranded biotin-labeled amplified DNA was specifically hybridized to the addressed probes. Perfectly matched duplexes were detected by fluorescence microscopy using R-phycoerythrin as the detection label. The developed methodology was applied to genotype assignment of K-ras in human samples. The genotypes of 75 DNA genomic samples from colorectal cancer patients were analyzed side by side using direct DNA sequencing and a polypyrrole DNA chip. Results: The chip method unequivocally defined all of the genotypes. Mutations present at <10% of the wild-type DNA concentration could be distinguished. Conclusions: This probe array assay is a rapid and reliable procedure that may be used to detect mutations.

Spectrum of TGFBI gene mutations among Polish patients with corneal dystrophies

2008 ◽  
Vol 86 ◽  
pp. 0-0
Author(s):  
M OLDAK ◽  
JP SZAFLIK ◽  
RB MAKSYM ◽  
U KOIODZIEJSKA ◽  
A POLLAK ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A110-A110
Author(s):  
McTaggart Sj ◽  
Algar E ◽  
Chow Cw ◽  
Powell Hr ◽  
Jones CL.
Keyword(s):  
Gene Mutations ◽  
Wt1 Gene ◽  
Frasier Syndrome
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