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Introduction to Medical Genetics Fadel A. Sharif Contact details Medical Technology Department Genetics lab [email protected] Textbook: Genetics in Medicine, 7th edition. Nussbaum, McInnes & Willard. W.B. Saunders Co. (2007). Reference Emery’s Elements of Medical Genetics, 13th edition, Turnpenny & Ellard. Churchill Livingstone. (2007). Grades Midterm exam 30% Assignments, participation & quizzes 10% Final exam 60% Topics 1: Introduction 2: Patterns of Single-Gene Inheritance 3: Genetic Variation in Individuals 4: Genetic Variation in Populations 5: Gene Mapping 6: Principles of Clinical Cytogenetics 7: Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes 8: Treatment of Genetic Diseases 9: Genetics and Cancer 10: Prenatal Diagnosis Glossary & Definitions Genetics is concerned with variation and heredity in all living organisms Human genetics is the science of variation and heredity in humans Medical genetics deals with human genetic variation of significance in medical practice and research Cytogenetics: the study of chromosomes Glossary & Definitions Genomics: the study of genome, its organization and functions Population genetics: genetic variation in human populations and factors that affect allele frequencies Clinical genetics: application of genetics to diagnosis and patient care Genetic counseling: risk information, psychological and educational support to patients and/or their families Glossary & Definitions Genotype - the genetic constitution of the organism Phenotype - the observable expression of genotype Glossary & Definitions Locus - a chromosomal location Alleles - alternative forms of the same locus Mutation - a change in the genetic material, usually rare and pathological Polymorphism - a change in the genetic material, usually common and not necessarily pathological Glossary and Definitions Homozygote - an organism with two identical alleles Heterozygote - an organism with two different alleles Hemizygote - having only one copy of a gene Males are hemizygous for most genes on the sex chromosomes Glossary and Definitions Dominant trait - a trait that shows in a heterozygote Recessive heterozygote trait - a trait that is hidden in a Family history is important It can be critical in diagnosis Can provide info about natural history of the disease & variation in its expression Can clarify pattern of inheritance Note: Diagnosis of a hereditary condition allows risk estimation in other family members so that proper management, prevention, & counseling can be offered to patient & family Role of Genes in Human Disease Most diseases / phenotypes result from the interaction between genes and the environment Some phenotypes are primarily genetically determined Achondroplasia Other phenotypes require genetic and environmental factors Mental retardation in persons with PKU Some phenotypes result primarily from the environment or chance Lead poisoning Major types of genetic disease Chromosomal Single disorders gene disorders Polygenic diseases Chromosomal disorders Addition or deletion of entire chromosomes or parts of chromosomes. Rearrangement of chromosomal segments Typically Classic more than 1 gene involved example is trisomy 21 - Down syndrome Down Syndrome Single gene disorders Single mutant gene has a large effect on the patient Transmitted in a Mendelian fashion Autosomal dominant, autosomal recessive, X-linked, Y-linked Osteogenesis imperfecta - autosomal dominant Sickle cell anemia - autosomal recessive Haemophilia - X-linked Autosomal dominant pedigree Polygenic diseases The most common yet still the least understood of human genetic diseases Result from an interaction of multiple genes, each with a minor effect The susceptibility alleles are common Type I and type II diabetes, autism, multiple sclerosis Polygenic disease pedigree Identifying disease genes has been revolutionized by the sequencing of the Human Genome The sequence 3.3 billion base pairs Gene This prediction ~ 25,000 is likely to be an underestimation due to the occurrence of regulatory RNAs Accessing the sequence Public databases Freely available Continuously modified and updated www.ensembl.org Searching for FRZB FRZB is located on chromosome 2 FRZB transcript sequence Two common amino acid substitutions in FRZB