L'analisi di linkage in famiglie informative per l'identificazione di geni malattia nell'era post-genoma

Translated title of the contribution: Linkage analysis in informative families for the identification of disease genes in the post-genoma era

R. Cusano, C. Lo Nigro, E. Panza, M. Marini, A. Bolino, M. Lerone, M. Silengo, R. Ravazzolo, M. Seri

Research output: Contribution to journalArticle

Abstract

During the last few years, the identification and characterization of disease genes has become the main approach to understanding the role of specific genes in the pathogenesis of inherited disorders. Several strategies have been developed to identify novel disease genes. As the Human Genome Project finishes off the sequence of the human genome and the 30000-35000 genes estimated to be present in our genome are identified, the "positional candidate gene approach" will be the elective strategy in the correlation of a gene with a specific clinical phenotype. In the positional candidate gene approach, the genetic mapping of a locus is the first step for searching a disease gene. In fact, when a new disease gene is assigned to a specific locus in the genome, it will be easy to search in the database the genes isolated from the same region which will be candidate as responsible for the disorder. In this respect, the collection of informative families with recurrence of specific genetic disorders in one hand and the genetic mapping of these inherited diseases on the other hand assume a relevant importance in order to identify new disease genes.

Original languageItalian
Pages (from-to)90-98
Number of pages9
JournalGaslini
Volume33
Issue number1
Publication statusPublished - 2001

Fingerprint

Genes
Genome
Human Genome Project
Inborn Genetic Diseases
Human Genome
Hand
Databases
Phenotype
Recurrence

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

L'analisi di linkage in famiglie informative per l'identificazione di geni malattia nell'era post-genoma. / Cusano, R.; Lo Nigro, C.; Panza, E.; Marini, M.; Bolino, A.; Lerone, M.; Silengo, M.; Ravazzolo, R.; Seri, M.

In: Gaslini, Vol. 33, No. 1, 2001, p. 90-98.

Research output: Contribution to journalArticle

Cusano, R, Lo Nigro, C, Panza, E, Marini, M, Bolino, A, Lerone, M, Silengo, M, Ravazzolo, R & Seri, M 2001, 'L'analisi di linkage in famiglie informative per l'identificazione di geni malattia nell'era post-genoma', Gaslini, vol. 33, no. 1, pp. 90-98.
Cusano, R. ; Lo Nigro, C. ; Panza, E. ; Marini, M. ; Bolino, A. ; Lerone, M. ; Silengo, M. ; Ravazzolo, R. ; Seri, M. / L'analisi di linkage in famiglie informative per l'identificazione di geni malattia nell'era post-genoma. In: Gaslini. 2001 ; Vol. 33, No. 1. pp. 90-98.
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