Diagnóstico molecular e aconselhamento genético na doença de Huntington: um estudo de caso

Abstract

Huntington's Disease (HD) is a genetic, rare and degenerative disease that affects about 5 to 10 people per 100,000. HD has no treatment and its diagnosis is made by counting the CGA nucleotide repeats in the gene through a Polymerase Chain Reaction (PCR). Its manifestation is late and treatment is only palliative, HD still has no cure. Molecular diagnosis together with genetic counseling (GA) is one of the best ways to reduce cases of HD through family planning and improve the quality of life of diagnosed patients. The study was divided into thre estages: In the first realization of molecular diagnosis of Huntington's Disease(HD) and genetic counseling (GA) of a family in southwestern Paraná, through the extraction of DNA from a clinically confirmed patient and comparison of its DNA from your family members. In which one volunteer showed significant changes to the gene and the other two volunteers in normal amounts. In the second stage, only the participants who did not show changes opted for sequencing and one of the volunteers decided to give up because he did not agree with the result. In the second stage, confirmation was obtained through automatic sequencing in a specialized laboratory, proving the effectiveness of the protocol used. In the third stage, a questionnaire on quality of life was applied. The result was a mean of 0 to 2.9 on a scale of 5 showing a poor quality of life for participating HD patients. This work confirmed the importance of early diagnosis for the disease. And the effectiveness of themethodsused to develop this work