Silvia Giorgi - Academia.edu (original) (raw)

Silvia Giorgi

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Papers by Silvia Giorgi

Research paper thumbnail of Un estudio sobre el rozamiento en libros de física de nivel universitario

Page 1. INVESTIGACIÓN DIDÁCTICA 273 ENSEÑANZA DE LAS CIENCIAS, 1999, 17 (2), 273-280 UN ESTUDIO S... more Page 1. INVESTIGACIÓN DIDÁCTICA 273 ENSEÑANZA DE LAS CIENCIAS, 1999, 17 (2), 273-280 UN ESTUDIO SOBRE EL ROZAMIENTO EN LIBROS DE FÍSICA DE NIVEL UNIVERSITARIO CONCARI, SONIA BEATRIZ1 ...

Research paper thumbnail of Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

European Journal of Human Genetics, 2006

An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from ... more An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF causing due to their high frequency of occurrence. Through this survey the CFTR has become the most exhaustively studied gene for its coding sequence variability and, though to a lesser extent, for its noncoding sequence variability as well. Interestingly, most variation was associated with the M470 allele, while the V470 allele showed an 'extended haplotype homozygosity' (EHH). These findings make us suggest a role for selection acting either on the M470V itself or through an hitchhiking mechanism involving a second site. The possible ancient origin of the V allele in an 'out of Africa' time frame is discussed.

Research paper thumbnail of A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

Human Genetics, 2000

Given q as the global frequency of the alleles causing a disease, any allele with a frequency hig... more Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in order to decide whether they are the cause of cystic fibrosis. A total of 191 DNA samples from random individuals from Italy, France, and Spain were investigated by DGGE (denaturing gradient gel electrophoresis) analysis of all the coding and proximal non-coding regions of the gene. The mutations detected by DGGE were identified by sequencing. The sample size was sufficient to select essentially all mutations with a frequency of at least 0.01. A total of 46 mutations was detected, 20 of which were missense mutations. Four

Research paper thumbnail of Un estudio sobre el rozamiento en libros de física de nivel universitario

Page 1. INVESTIGACIÓN DIDÁCTICA 273 ENSEÑANZA DE LAS CIENCIAS, 1999, 17 (2), 273-280 UN ESTUDIO S... more Page 1. INVESTIGACIÓN DIDÁCTICA 273 ENSEÑANZA DE LAS CIENCIAS, 1999, 17 (2), 273-280 UN ESTUDIO SOBRE EL ROZAMIENTO EN LIBROS DE FÍSICA DE NIVEL UNIVERSITARIO CONCARI, SONIA BEATRIZ1 ...

Research paper thumbnail of Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

European Journal of Human Genetics, 2006

An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from ... more An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF causing due to their high frequency of occurrence. Through this survey the CFTR has become the most exhaustively studied gene for its coding sequence variability and, though to a lesser extent, for its noncoding sequence variability as well. Interestingly, most variation was associated with the M470 allele, while the V470 allele showed an 'extended haplotype homozygosity' (EHH). These findings make us suggest a role for selection acting either on the M470V itself or through an hitchhiking mechanism involving a second site. The possible ancient origin of the V allele in an 'out of Africa' time frame is discussed.

Research paper thumbnail of A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

Human Genetics, 2000

Given q as the global frequency of the alleles causing a disease, any allele with a frequency hig... more Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in order to decide whether they are the cause of cystic fibrosis. A total of 191 DNA samples from random individuals from Italy, France, and Spain were investigated by DGGE (denaturing gradient gel electrophoresis) analysis of all the coding and proximal non-coding regions of the gene. The mutations detected by DGGE were identified by sequencing. The sample size was sufficient to select essentially all mutations with a frequency of at least 0.01. A total of 46 mutations was detected, 20 of which were missense mutations. Four

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