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Artigos EINA - Deficiência Genética

Cromossomo 15

Alterações de distintas regiões do cromossoma 15 são as causas das Síndrome de Prader-Willi (região PW na figura) e Angelman (região A na figura).

As síndromes se diferenciam também pela origem do cromossomo alterado. Na síndrome de Prader-Willi, esse cromossomo é em geral de origem paterna, enquanto que na síndrome de Angelman é de origem materna.

Essa característica decorre do chamado fenômemo de "imprinting", através do qual um gene ou cromossômo originário de um dos parentes domina sobre o outro. Acredita-se que tal fenômeno dependa do grau de metilação de região definida do cromossoma 15 (região IC na figura).

Outro mecanismo genético que interfere na gênese das síndromes causadas pelo cromossomo 15 é o chamado dissomia uniparental, pelo qual o feto herda seus dois cromossomos de um único parente. Por isso, quando o cromossomo alterado da síndrome de Prade-Willi tem origem materna, os dois cromossomos tiveram a mesma origem. O mesmo vale para síndrome de Angelman, quando os ambos cromossomos têm origem paterna.


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