Chapter 29, Problem 17STP

Summary Introduction

To discuss:

A technology that has changed the way in which scientists learn about genetics, and the way it has brought about the change.

Introduction:

Due to increasing developments in genomic technology, the study of genetics has become important in clinical practice and science. Over the last decade, substantial steps have been taken to discover the underlying causes of genetic disorders.In addition, genetic testing methods have become widely available and feasible even for small-scale laboratories, especially after the completion of the Human Genome Project, which coincided with advances in computer technology. Through the introduction of genetic testing for personalized medicine, we are at the beginning of an age that will offer new horizons for human health.

Explanation of Solution

Despite the creation of high resolution techniques that identified several documented or unknown genetic syndromes, many cases of submicroscopic aberrations that were not evident at resolution between 500 and 1000 bands remained undiagnosed. A new technique named fluorescence in situ hybridization (FISH) was developed in the field of molecular cytogenetics. Molecular genetics and cytogenetics have been bridged by this approach. FISH detects unique nucleic acid sequences from interphase nucleus or added to metaphase chromosomes. While this technique has progressed dramatically today, it was previously focused on the radioactively labelled ribosomal RNA hybridized to acrocentric chromosomes followed by the visualization of autoradiography hybridization.

Chromosome rearrangements could be identified more effectively with improved resolution of the FISH in both interphase and metaphase nucleus that might be used for study and clinical diagnosis. FISH also supported the possibility for the simultaneous use of one or more DNA probes by marking various colors or colour combinations. For FISH, many types of probes can be used.Whole-chromosomal painting probes, chromosomal-arm painting probes, and centromeric, subtelomeric, and locus-specific probes are some of the examples available for the identification of particular constitutional and acquired chromosomal defects.

Conclusion

Thus, the fluorescence in situ hybridization can changed the way in which scientists learn about genetics.