Molecular characterization of genes modifying the age at onset in XXXX in Uruguayan @entity1 .

@entity1 @entity31482 @entity2033 @entity28569 @entity28571 @entity6217 @entity22072 @entity33975 @entity72998 @entity5855 @entity72999 @entity2034 @entity14827
UNASSIGNED: @entity2033 ( @entity2033 ) is an @entity14827 . The genetic cause is an expansion of CAG repeats located in the @entity2034 gene. Though the number of CAG repeats ((CAG)n) can largely explain the @entity22072 ( @entity22072 ), a percentage of its variation could be attributed to modifier genes and to environmental factors. The study aimed to evaluate the influence of genetic modifiers of the @entity22072 of @entity2033 including: (CAG)n and del2642 in the @entity2034 gene, @entity28569 @entity28571 , @entity31482 @entity72998 , @entity6217 @entity33975 and @entity5855 @entity72999 . Eighteen @entity1 with positive family history and @entity2033 suggestive symptoms were recruited. The (CAG)n and gene polymorphisms were determined by different molecular biology techniques. We observed that the (CAG)n influenced in a 64.5% of the variability in the @entity22072 . We also showed that the @entity28571 variant significantly affected this variability. However, the influence of @entity5855 , del2642, @entity31482 and @entity6217 gene polymorphisms could not be replicated, perhaps due to small sample size. Genetic studies including the molecular determination of (CAG)n in addition to other genetic modifiers involved in the variability of the @entity22072 were first performed in Uruguay. We could replicate in our cohort the anticipation effect on the @entity22072 by the @entity28569 @entity28571 . Our results confirm the usefulness of an expanded molecular characterization in @entity2033 @entity1 .
