Human Molecular Genetics

Human genome organization
Human gene organization, multigene families and pseudogenes. Human repeated sequences. Organization, distribution and function of RNA genes in humans
Mendelian inheritance.
Autosomal dominant and recessive inheritance. Complications of the patterns of inheritance : genetic heterogeneity , incomplete penetrance , variable expressivity, late onset , anticipation , imprinting and uniparental disomy , somatic and germline mosaicism; mitochondrial inheritance; interpretation of the pedigrees ( symbology ) .
Sex-linked inheritance.
X and Y linked genes; chromosome inactivation X; functional mosaicism resulting from the X chromosome inactivation, Determination and sex differentiation.
Structure and function of chromosomes.
Human karyotype: morphology and classification of human chromosomes; Kariotyping and chromosome banding; prenatal and postnatal chromosome analysis. Molecular cytogenetic techniques applications.
Chromosomal abnormalities.
Numerical chromosomal abnormalities and their effects (polyploidy, aneuploidy); meiotic and mitotic non-disjunction. Main human aneuploidy of autosomes and sex chromosomes. Structural chromosomal abnormalities and their effects; Balanced and unbalanced rearrangements; Mosaicism.
Mutations and genome instability.
Classes and molecular mechanisms of mutations. Genetic polymorphisms. Main types of DNA polymorphisms used as genetic markers (RFLP, microsatellites, SNPs). Molecular pathology: mutation for loss or gain of function in relation to dominance-recessiveness. Submicroscopic structural variants: copy number variants (CNVs) and their pathological effects; unequal crossing over as a mechanism that generates structural variant
Repeat instability
Mechanisms and classification of dynamic mutations: Fragile X Syndrome, Myotonic Dystrophy , Huntington disease, Kennedy Disease.
Molecular pathology.
Methods for the identification of point mutations: methods to identify new mutations.
Genetic mapping of characters Mendelian and complex traits.
Genetic markers, recombination frequency and construction of genetic maps. Linkage analysis and calculation of "lod score". Complex or multifactorial diseases: continuous and discontinuous characters; interaction with the environment; characters with threshold effect. Concept of heritability. Twins studies. Strategies for the identification of genetic factors involved in complex diseases. Non-parametric linkage analysis, case-control association studies, association studies extended to the whole genome (GWAS). Study of linkage disequilibrium and HapMap project.
Identification and characterization of candidate genes for inherited diseases.
Molecular analysis of the human genome.
The Human Genome Project, mapping and genome sequencing
The genetics of hereditary cancers. The tumor suppressor genes and the two-hit mechanism.