Abstract
The review summarizes literature data on the positive results of association studies between the length of microsatellite repeats and predisposition to pathologies. Actually, the data can be classified according to the localization of the microsatellite: in the gene promoter, in the part of exon 1 coding the signal sequence, in gene introns, in the coding areas of genes, and in 3'-untranslated regions. The functional significance of microsatellite length changes can be evaluated in many cases. The authors came up to the conclusion that further studies on microsatellite associations with diseases remain prospective as they reflect changes in the gene functional activity.
Highlights
Microsatellites (MSs) are repeating sequences of 2–6 base pairs of DNA [1]
A length polymorphism of GT repeats in the promoter region of the human heme oxygenase-1 (HO-1) gene modulates the transcription of this gene [28]
The aldose reductase (AKR1B1) gene promoter harbors a (CA)n microsatellite significantly associated with diabetic retinopathy
Summary
The review summarizes literature data on the positive results of association studies between the length of microsatellite repeats and predisposition to pathologies. The data can be classified according to the localization of the microsatellite: in the gene promoter, in the part of exon 1 coding the signal sequence, in gene introns, in the coding areas of genes, and in 3'-untranslated regions. The functional significance of microsatellite length changes can be evaluated in many cases. The authors came up to the conclusion that further studies on microsatellite associations with diseases remain prospective as they reflect changes in the gene functional activity
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