[New technologies for the human genome exploration]

Abstract

Human genome consists of 23 pairs of chromosomes, bearing our genetic information. Basically, there are two main approaches to analyse our genome: molecular genetics with direct sequencing, which detects genic mutations, and cytogenetics with the karyotype, which detects number and structural chromosomal anomalies. The main limitation of the karyotype is its level of resolution: it cannot detect abnormalities smaller than five megabases. The combined use of cytogenetics and molecular genetics has allowed the development of several new techniques that provide a comprehensive analysis of the genome with a very high level of resolution. Currently, the most efficient of those techniques is comparative genomic hybridization on microarray (array CGH), which already has diagnostic applications. However, those new methods are challenging to interpret and they raise ethical problems. Therefore they must be cautiously supervised.