ABSTRACT
This chapter begins with a description of polymerase chain reaction (PCR) method; other, older techniques for studying genetic variation. It discusses the use of PCR in typing polymorphisms in DNA, and the use of PCR in examining DNA sequences in ancient samples. The chapter focuses on analyzing diversity in modern samples, and ancient DNA studies. It also focuses on the ‘postgenomic’ methods, but will refer to traditional methods as well. The problem we are faced with, however, is that in any human DNA sample the ß-globin gene represents only 0.00005% of the 3200-Mb genome. Any study of human genetic diversity requires DNA samples from a number of different individuals. Detection of a single specific base in the 6400–Mb of a diploid genome is a difficult task, and no single nucleotide polymorphisms typing method is 100% accurate. Assays of genomic rearrangements have tended to focus on pathogenic chromosomal structures, rather than structural polymorphism.
