Application of Repeats to Human Genomic Studies

Repeated sequences can be useful genetic tools. Because many of the repeated sequences are stably inherited, highly conserved, and found throughout the genome, they are ideal for genetic studies: They can act as "signposts" for finding and mapping functional genes. In addition, a repeat at a particular locus may be absent in one individual, or it may differ between two individuals (polymorphism). This makes repeats useful for identifying specific individuals (called DNA profiling) and their ancestors (molecular anthropology).

Microsatellites, in particular, have been used to identify individuals, study populations, and construct evolutionary trees. They have also been used as markers for disease-gene mapping and to evaluate specific genes in tumors. LINEs, and particularly the human SINE Alu, have been used for studies of human population genetics, primate comparative genomics, and DNA profiling. see also Centromere; Chromosome, Eukaryotic; In Situ Hybridization; Polymorphisms; Pseudogenes; Retrovirus; Telomere; Transposable Genetic Elements; Triplet Repeat Disease.

Astrid M. Roy-Engel and Mark A. Batzer


Deininger, Prescott L., and Mark A. Batzer. "Alu Repeats and Human Disease." Molecular Genetics and Metabolism 67, no. 3 (1999): 183-193.

Deininger, Prescott L., and Astrid M. Roy-Engel. "Mobile Elements in Animal and Plant Genomes." In Mobile DNA II, Nancy L. Craig, et al., eds. Washington, DC: ASM Press, 2001.

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