Richard G.H. Cotton, Ourania Horaitis
Genomic Disorders Research Centre, St. Vincent’s Hospital Melbourne The University of Melbourne, Department of Medicine, Melbourne, Australia
In recent years there has been some confusion of the various names used to represent base changes in DNA particularly in humans. Recent papers have examined the scientific1 meanings of terms used an also changes in the lay perception of the word mutation.2 However, in simple terms throughout biology for decades any base change is referred to as a “mutation”. In the clinic however, “mutation” is only reserved for base changes in genes causing single gene disorder such as cystic fibrosis or phenylketonuria. Changes in these genes and not causing the disease are refereed to as polymorphisms. In recent years, a new term has become popular as a result of the importance of base changes not causing disease directly and distributed throughout the genome and particularly between genes. These changes have been revealed by factory style approaches via human genome sequencing and specific searches for these base changes. These base changes have been referred to as single nucleotide polymorphisms (despite the fact that many involve more than one base) or SNPs, the catch word. There is even a tendency to call the above defined “mutation” in humans, SNPs. With this background in mind, this article concerns mutations and polymorphisms as dealt with in clinics.
In the 1970s people began collecting mutations because of research interests, particularly in the globins and the history of this collection can be seen in Table 1.
Bartha Maria Knoppers (ed.), Populations and Genetics: Legal and Socio-Ethical Perspectives. ©2003 Koninklijke Brill NV. Printed in the Netherlands.