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CYPs, SNPs, and Molecular Diagnosis in the Postgenomic Era

Departments of Human Genetics, and Pediatrics, UCLA School of Medicine, 10833 LeConte Avenue, Los Angeles, CA 90095-1752, Fax 310-206-4584, E-mail evilain@ucla.edu

Advances in the Human Genome Project have profoundly influenced not only the search for new genes, but also the molecular diagnosis of genetic disorders. In the early 1980s, the first generation of the human genome map was based on restriction fragment length polymorphisms (RFLPs) identified by Southern analysis (1). Linkage analysis by RFLP became a very powerful tool for molecular diagnosis. The early 1990s saw the rise of the second generation of mapping, based on microsatellite markers and PCR amplification (2). These multiallelic polymorphisms are much more informative than RFLPs and simpler to study. We are now witnessing the third generation of genome mapping, based on single-nucleotide polymorphisms (SNPs), and analyzed by PCR and chip-based microarrays (3).

An SNP involves any nucleotide of the human genome in which two different bases can be found in the population. SNPs are the most common type of human genetic variation. Because they have only two alleles, they are less informative than microsatellites. This drawback is overcome by their high density throughout the genome and the simplicity and possible automation of their analysis. They may become one of the most powerful tools in human genetics for identifying disease genes and mapping . . . [Full Text of this Article]

References

The following articles in journals at HighWire Press have cited this article:

				Y. Eitan and Y. Kashi Direct micro-haplotyping by multiple double PCR amplifications of specific alleles (MD-PASA) Nucleic Acids Res., June 15, 2002; 30(12): e62 - e62. [Abstract] [Full Text] [PDF]

				D. H. Oliver, R. E. Thompson, C. A. Griffin, and J. R. Eshleman Use of Single Nucleotide Polymorphisms (SNP) and Real-Time Polymerase Chain Reaction for Bone Marrow Engraftment Analysis J. Mol. Diagn., November 1, 2000; 2(4): 202 - 208. [Abstract] [Full Text]