Genechip Detection of Mutations in Exons in cTnl Gene Associated with FHCM

摘要

Hypertrophic cardiomyopathy (HCM), the most common cause of the sudden death in the young, is one of the diseases damaging people health most badly. More than 55% of the HCM patients are genetic. In this paper, a low-density gene-chip to detect the mutations in exons 3, 5, 7, and 8 in cTnl were shown. The fabricated gene-chip can detect the mutations in the exons in cTnl gene with relative high sensitivity and specificity. When applying the fabricated gene-chip 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 gene-chip can be developed to investigate and diagnose FHCM after further improvement.The abstract must be limited up to 150 words.