TRASTRORNOS GENETICOS

Clinica de las anormalidades

GeneticasDr Gabriel Silva Arevalo

Pediatra-Genetista.CIB-Patologia

Mutaciones

CCTGATGGATCGCGTACGTTGTACGCACAGTGTCGAAAAAGCATACGGGGACTGCACGTACACGTAGCACGGCGTCGATTTTGACGTGCACGTGTCAGTGCGATGAGTGAGTGACACACAGTGCAGCGTGTGTACCCATGCGCGAAGTATGT

CTGGACT

An important mechanism that is now well established for many repeat expansion diseases is the toxicity of RNAs that contain expanded repeat sequences. In these diseases, the RNAs that contain expanded repeats interact with different RNA-binding proteins

(coloured shapes) to produce disease. This is a 'trans-dominant' model of RNA toxicity: the interaction of mutant RNA with RNA-binding proteins is envisioned to interfere with the functions of the interacting proteins,

which leads to abnormalities in the pathways regulated by the RNA-binding proteins

Creacion

CLASES DE HERENCIA MENDELIANA: HERENCIA DOMINANTE

Sindrome de Marfan

Expression y Penetrance

HERENCIA MENDELIANA RECESIVA

UCDVia Bioquimica Datos Clinicos

6q23 Arg1.

Role en asma y metabolismo de NO.

Leve a moderada NH4, progresiva espasticidad,convulsiones y fallo en el desarrollo intelectual debido al alto nivel de CGG.

CGG alto, NH4 L-M.

Efectos de Argininasa

Riesgos de transmision de enfermedad ligada a X

Anormalidades Cromosomicas

Casos Clinicos