Genechip-detecting mutations in exon 8 in cTnI gene associated with FHCM

Yuanying Zhang; Nongyue He; Huishi Guo; Di Yang; Wenhui Wan; Zhiping Bian; Jinan Zhang

doi:10.1117/12.573505

19 January 2005 Genechip-detecting mutations in exon 8 in cTnI gene associated with FHCM

Yuanying Zhang, Nongyue He, Huishi Guo, Di Yang, Wenhui Wan, Zhiping Bian, Jinan Zhang

Proceedings Volume 5592, Nanofabrication: Technologies, Devices, and Applications; (2005) https://doi.org/10.1117/12.573505
Event: Optics East, 2004, Philadelphia, Pennsylvania, United States

Abstract

As the rate of gene discovery accelerates, more efficient methods are needed to analyze genes in human tissues. Genechip, a kind of new device, is composed of DNA probes immobilized on a solid substrate. With the advantage of the high throughput information, genechip has become one of the best solutions to detect and analyse the mutations in genes. Hypertrophic cardiomyopathy (HCM), the most common cause of the sudden death in the young, is one of the diseases damaging people health most badly. It is an autosomal dominant disease. More than 55% of the HCM patients are genetic. The mutations of exon 8 in the Cardiac troponin I (cTnI) gene are closely associated with Family Hypertrophic Cardiomyopathy (FHCM). Our purpose is to perform the assay of the mutations in exon 8 in cTnI gene based on the genechip theory and technology. Special probes were designed to fabricate the genechip to detect the mutations in cTnI gene simultaneously. We designed two oligonucleotide sequences 5’-end labeled with fluorescein, one simulating wild-type and the other simulating mutant. We mixed oligonucleotide I and II together to simulate heterozygote. After optimizing the hybridization protocols, the fabricated genechip can detect the mutations in exon 8 in cTnI gene with relative high sensitivity and specificity. When applying the fabricated genechip to detect the target DNA sequence, we found that the fully complementary probe gave a fluorescent signal almost 50% stronger than that of the one base mismatched one, which is in accordance with the result from theoretic estimate. It is believed that an applicable special genechip can be developed for investigating and diagnosing FHCM after further improvement.

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Yuanying Zhang, Nongyue He, Huishi Guo, Di Yang, Wenhui Wan, Zhiping Bian, and Jinan Zhang "Genechip-detecting mutations in exon 8 in cTnI gene associated with FHCM", Proc. SPIE 5592, Nanofabrication: Technologies, Devices, and Applications, (19 January 2005); https://doi.org/10.1117/12.573505

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KEYWORDS

Target detection

Luminescence

Glasses

Estimation theory

Genetics

Signal detection

Biological research

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