Role of genetic variability in Mendelian and multifactorial diseases
Gac. méd. Méx
;
155(5): 463-470, Sep.-Oct. 2019. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1286544
ABSTRACT
The first draft of the human genome sequencing published in 2001 reported a large number of single nucleotide polymorphisms (SNPs). Given that these polymorphisms could practically represent all the variability involved in the susceptibility, protection, severity, among other aspects, of various common diseases, as well as in their response to medications, it was thought that they might be the biomarkers of choice in personalized genomic medicine. With the new information obtained from the sequencing of a larger number of genomes, we have understood that SNPs are only an important part of the genetic markers involved in these traits. In addition to SNPs, other variants have been identified, such as insertions/deletions (INDELs) and copy number variants (CNVs), which in addition to classic variable number tandem repeats (VNTRs) and short tandem repeats (STRs) originate or contribute to the development of diseases. The use of these markers has served to identify regions of the genome involved in Mendelian diseases (one gene-one disease) or genes directly associated with multifactorial diseases. This review has the purpose to describe the role of STRs, VNTRs, SNPs, CNVs and INDELs in linkage and association studies and their role in Mendelian and multifactorial diseases.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Variação Genética
/
Doença
/
Polimorfismo de Nucleotídeo Único
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Gac. méd. Méx
Assunto da revista:
Medicina
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
México
Instituição/País de afiliação:
Secretaría de Salud/MX
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