RESUMO

Three highly informative markers genetically linked to Huntington's Disease (HD) were used for diagnosis of HD in Mexican patients, two polymorphic HindIII sites located at D4S10 locus and one VNTR marker at D4S111 locus (VNTR-111). Forty chromosomes from healthy subjects were tested in order to evaluate the informativeness of the probes. The RFLP HindIII 1 and 2 and the VNTR-111 probes showed a heterozygosity of 0%, 45%, and 60%, respectively. Five families were analyzed, of these, only in two the markers used were informative. In one of them, six members showed a decreased risk of inheritance of the mutant gene for Huntington's Disease with 95% accuracy (1).

Assuntos

Doença de Huntington/diagnóstico , Doença de Huntington/genética , Reação em Cadeia da Polimerase , Adulto , Idoso , Sequência de Bases , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Polimorfismo Genético