Clin Pediatr | Volume 1, Issue 1 | Review Article | Open Access

A Brief History of Genomic Diagnosis: From Chromosome to DNA Array

Hidefumi Tonoki*

Department of Pediatrics, Tenshi Hospital, Japan

*Correspondance to: Hidefumi Tonoki 

Fulltext PDF

Abstract

In Pediatric practice, chromosome analysis is often performed. This is because it is essential to diagnose chromosomal abnormalities such as Down syndrome. This test, which was developed in the second half of twentieth century, has been replaced in the 21st century by comparative genomic hybridization using DNA arrays. In the past sixty years, genome analysis techniques have progressed rapidly. Chromosome analysis technology has evolved into the G-banding method, high-resolution method, and fluorescence in situ hybridization since human chromosome testing methods was established in the 1950s. On the other hand, gene cloning technology was established in 1980s and many disease-causing genes had been isolated using mainly positional cloning technique. The results of the Human Genome Project provided the foundation of genome testing and exome sequencing approach aided by next-generation sequencers now are revolutionizing modern genetic practice. I would like to outline the transition of genome diagnosis over the past sixty years.

Keywords:

Chromosomal abnormalities; FISH; DNA arrays; Exome Sequencing

Citation:

Tonoki H. A Brief History of Genomic Diagnosis: From Chromosome to DNA Array. Clin Pediatri. 2018; 1: 1002.

Subscribe to Our Newsletter