1. 遺伝学的検査の方法

抄録

　Recent progress in the field of molecular biology and genetics has been remarkable, and has led to elucidation of the pathogenesis of various diseases and to the establishment of new treatments. Next-generation sequencing and epigenetics are playing the central role. Although the human genome project was completed with a large expenditure in terms of time and money of about 13 years and 300 billion yen in 2003, the entire genome could be decoded in about two months at the cost of about 120 million yen in 2007 by one individual, Dr. James Watson, who was a Nobel prize winner in the field. This is the next-generation sequencing technology, and since the speed of analysis increased by leaps and bounds, it had the ability to decode one set in the time that it previously took to decode 200-1000 type sets, and the cost also decreased sharply, analyses are progressing in various regions now. Epigenetics refers to a change of acquired (based on an environmental agent) genetic control without any change of he DNA sequence, and research has been prospering from around 2000. Typical epigenetic mechanisms include DNA methylation, histone modification, non-coding RNA, etc., and it is thought that these phenomena cooperate mutually, causing a change in the gene expression control and chromatin structure, and leading to differences of expression among individuals. The study on congenital hearing loss precedes genetic research in the field of Otorhinolaryngology, and this paper explains a part of it.