Podiatry

Aims of the Course: Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders. Program of Medical Genetics The structure and function of DNA From DNA to protein: transcription, RNA splicing the genetic code, translation. Human genome organization Genes and mutations. Origin of mutations. Point mutations, deletions, insertions, splicing mutations, dynamic mutations. Structure and function of chromosomes. Human chromosomes: the number, structure and function. Chromosomal aberrations. The normal and pathological human karyotype Correlations between gametogenesis, meiosis, and segregation. Family pedigrees: symbols Concepts of inherited traits, gene, allele, locus Mendel's laws and allelic interactions: dominance and recessive, phenotype and genotype Family pedigrees: symbols Classification of genetic disorders Examples of hereditary monogenic Mendelian transmission: autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant. Non Mendelian inheritance

Biologia e Genetica N A. Campbell e J B. Reece:. Pearson Elementi di biologia e genetica. William K. Purves, David Sadava, Gordon H. Orians, H. Craig Heller: Ed Zanichelli Genetica umana e medica (Neri, Genuardi) Ed. Elsevier Masson Links consigliati: Mendelian Inheritance in Man : http://www.ncbi.nlm.nih.gov/Omim/

Aims of the Course: Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders. Program of Medical Genetics The structure and function of DNA From DNA to protein: transcription, RNA splicing the genetic code, translation. Human genome organization Genes and mutations. Origin of mutations. Point mutations, deletions, insertions, splicing mutations, dynamic mutations. Structure and function of chromosomes. Human chromosomes: the number, structure and function. Chromosomal aberrations. The normal and pathological human karyotype Correlations between gametogenesis, meiosis, and segregation. Family pedigrees: symbols Concepts of inherited traits, gene, allele, locus Mendel's laws and allelic interactions: dominance and recessive, phenotype and genotype Family pedigrees: symbols Classification of genetic disorders Examples of hereditary monogenic Mendelian transmission: autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant. Non Mendelian inheritance

Biologia e Genetica N A. Campbell e J B. Reece:. Pearson Elementi di biologia e genetica. William K. Purves, David Sadava, Gordon H. Orians, H. Craig Heller: Ed Zanichelli Genetica umana e medica (Neri, Genuardi) Ed. Elsevier Masson Links consigliati: Mendelian Inheritance in Man : http://www.ncbi.nlm.nih.gov/Omim/