Medical Genetics at a Glance

Uses a structured approach in the molecular diagnostic techniques of modern clinical genetics.

Section I: developmental biology; basic cell biology; the cell; the chromosomes; DNA structure; DNA replication; RNA structure; production of the messenger RNA; protein synthesis; the cell cycle; gametogenesis; embryology; sexual differentation. Section II: medical genetics; the place of genetics in medicine; chromosomal aneuploidies; chromosomal structural anormalities; Mendel's law; autosomal dominant inheritance; autosomal recessive inheritance; intermediate inheritance; sex related inheritance; congenital abnormalities; multifactorial threshold traits; common disorders of adult life; normal polymorphism; allele frequency; genetic linkage and disease association; mutagenesis & DNA repair; mutations; the molecular biology of cancer; familial cancers; immunogenetics. Section III: clinical genetics; overview of clinical and laboratory methods; pedigree construction; dymorphology and dermatoglyphics; twin studies; chromosome analysis & related diagnostic procedures; gene mapping; diagnostic applications of the human gene map; prenatal sampling; biochemical diagnosis; DNA sequencing & related diagnostic procedures; southern blotting & related diagnostic procedures; PCR amplificiation and related diagnostic procedures; DNA profiling; risk assessment & genetic counselling; preventative genetics and gene therapy.