Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease ‐affected families

ConclusionThe genetic profiles of the IAs obtained from GP and AS were rather similar. It is important to investigate the frequencies of the IAs because expansions arise from a step ‐by‐step mechanism in which, during intergenerational transmission, large normal alleles can generate IAs, which are then responsible for generating de novo HD mutations. The genetic investigation of IAs in the GP was also important because it was focused on the population of Rio de Janeiro, an understudied group. CCG7 was the most frequent CCG allele in linkage disequilibrium with normal, intermediate, and expanded CAG alleles, similar to the Western Europe population. However, a more robust investigation, in conjunction with haplogroup determination (A, B, or C), will be required to eluc idate the ancestral origin of theHTT mutations in Brazilians.

Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Thays A. Apolin ário, Iane dos Santos Silva, Luciana de Andrade Agostinho, Carmen L. A. Paiva Tags: ORIGINAL ARTICLE Source Type: research