PubMed Health⌕ Search

Biomedical subjects

G Annesi

Publications and source records attributed to G Annesi.

23 records · Page 2Linked to original sources
PubMed1997

Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy).

The defect causing Huntington's disease (HD) has recently been discovered as an expanded CAG trinucleotide repeat located at the 5' end of the IT15 gene. This discovery allows the molecular diagnosis of HD by measuring the CAG repeat length. The normal and pathological repeat ranges in a population need to be established before a diagnostic test for HD can be performed. To determine the distribution of IT15 alleles in a population from Calabria (southern Italy), we analyzed 102 normal subjects and 9 HD patients coming from a defined area of Calabria (province of Cosenza). Expanded alleles ranged from 44 to 76 repeats. Normal alleles varied from 8 to 27 repeats, which is one of the lowest values observed at the top of the normal range; the mean was significantly different from the value observed in six other populations. The allele distribution seemed to group mainly around the mode, and no intermediate alleles were present in our sample. These results suggest a particular stability of the CAG repeat at the IT15 locus in the Calabrian group and confirm once again the peculiar genetic structure of this population.

Alleles↗
PubMed1996

Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease.

Huntington disease (HD) is a neurodegenerative disorder caused by an expanded trinucleotide repeat (CAG)n located at the 5' end of the novel IT15 gene. Discovery of this expansion allows the molecular diagnosis of HD by measuring repeat length. We applied a simple nonisotopic method to detect (CAG)n repeats, avoiding both radioactive and Southern transfer analysis. The assay is based on direct visualization of electrophoresed PCR products, after silver nitrate gel staining. Its accurate sizing of HD alleles allows presymptomatic diagnosis of at-risk persons. By avoiding isotopic manipulations, the method is safe and accurate, with no radioactive background bands. Furthermore, because it permits direct allele visualization after gel staining, the method is simple and rapid, allowing allele sizing within hours rather than days.

Alleles↗
PubMedDate not supplied

A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene.

Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at the 5' end of the gene responsible for the disease (SCA1 gene). We propose a simple and rapid method for SCA1 diagnosis, avoiding both radioactive and Southern blotting analysis. The method allows an accurate allele sizing by visualization of polymerase chain reaction products through a silver nitrate-stained polyacrylamide gel.

DNA Restriction Enzymes↗