Genética: Herencia Autosómica y Distrofina

Herencia Autosómica Dominante y Recesiva

• Probabilidad de transmisión: If a person has a recessive gene mutation, the probability of passing it on is 50%.

• Retinoblastoma Familiar: Can be unilateral or multifocal.

• Marfan Syndrome: TGFBR2 mutations can lead to issues like dislocated lenses, aortic dilation and pectus excavatum, among others.

• Lisch Nodules: Often associated with retinoblastoma.

• Genetic Diseases: Different types of mutations on different alleles, in the same locus of disease are known as "Heterogeneity of locus".

Distrofina en Tejido Nervioso vs. Muscular

• Protein Differences: Distrophin in nervous tissue differs from muscular distrophin in its activators, 3' end of the poly(A) tail, and alternative splicing.

Monocromatismo de Bastones

• Inheritance Pattern: Autosomal recessive.

Factor de Von Willebrand

• Favorable Factors: Involved in fibrin formation, factor VIII production, and platelet adhesion.

X-linked Recessive Mutations in Females

• Expression: The expression of recessive X-linked mutations in females is due to the effect of dosage.

Modos No Clásicos de Herencia

• FMR1 Premutation: Some women with this premutation have issues like premature ovarian failure.

• Microsatellite Expansion Diseases: Always have reduced penetrance.

• Myotonic Dystrophy Type 1 (DM1): Abnormal mRNA in DM1 remains in the cytoplasm.

• MELAS Syndrome: Mitochondrial mutation, generally in tRNA and is heteroplasmic.

• H19 Gene Imprinting: This gene is normally imprinted maternally.

Bioquímica Clínica

• CYP21A2 Mutation: Leads to congenital adrenal hyperplasia with symptoms such as mild hyperestrogenism, lack of androgens, neonatal hypernatremia, and hypokalemia.

• Fructosuria: Caused by mutations in the enzyme 1,6-bifosfato aldolasa.

• Gluconeogenesis Disorders: Often caused by mutations in the enzyme fructose 1,6-bisphosphatase.

• Galactosemia: Untreated galactosemia can lead to ketoacidosis, seizures and coagulopathy in infants.

• Cistinuria Type 1: Caused by mutations.

• Growth Hormone Deficiency: Can be autosomal dominant.

β-thalassemia

• Inheritance Pattern: Autosomal dominant.

Otros temas

• Haploinsuficiencia: A condition where a single, functional copy of a gene is not sufficient to produce a normal phenotype.

• Expresividad: Probability of a mutation expressing a phenotype.

• Variabilidad Genómica: Differences in the genome sequence.

• Penetrancia: The proportion of individuals with a particular genotype who exhibit the associated phenotype.

• Polimorfismo: Variations in DNA sequences among individuals that don't cause disease.

• Polimerismo: Variations in DNA sequences among individuals that don't cause disease.

• Genes Modificadores: Genes that modify the expression or severity of a trait caused by another gene.

• Heterogeneidad Alelica: Different mutations within the same gene can cause the same trait.

• Heterogeneidad de locus: Mutations in different genes can cause the same trait.

Repaso de conceptos clave en genética, incluyendo la herencia autosómica dominante y recesiva. Se exploran ejemplos como el retinoblastoma familiar, el síndrome de Marfan y el monocromatismo de bastones, así como las diferencias de la distrofina en tejidos nervioso y muscular.