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Medical Genetics Introduction to Medical Genetics Dr.Aida Fadhel Biawi , 2013 Medical Genetics Genetics concerns the process of trait inheritance from parents to offspring, including the : 1- molecular structure and function of genes 2-gene behavior in the context of a cell or organism (e.g. dominancy) 3- gene distribution and variation and change in populations . Medical Genetics A brief history: 1-The observation of Arabs , ancient Greeks and Hebrews regard genetic phenomena. 2- The experiments of mendel in 1865 on pea. 3- 35 years later, Darwin formulated his theories of volution. Medical Genetics 4- In 1900, the principles of Mendel rediscovered by three scientists in three different countries. 5- Also in 1900, Landsteiner discovered ABO blood groups. 6- In 1902 Garrod described alkaptonuria as a( first error inborn of metabolism ) Medical Genetics 7- In 1909 Johannsen use the term of gene to denote the basic unit of hereditary. 8- Next decades, Muller demonstrated the genetic consequences of ionizing radiation in the fruit fly. 9- In 1944, Avery showed that genes are composed from deoxyriboneuclic acids DNA. Medical Genetics 10- In 1953 Waston and Crick they published their paper about physical structure f the DNA formed the basis of what is now known as molecular genetics . 11- The human genome project provide the complete human DNA sequence from 1990-2003. Medical Genetics The genome refers to all of the DNA or genetic material in an organism . What about gene ? Allele ? Medical Genetics Branches of Genetics • Medical genetics • Microbial genetics • Molecular genetics • Population genetics • Archaeogenetic • Psychiatric genetics • Quantitative genetics Medical Genetics Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical Genetics Microbial genetics is a subject area within microbiology and genetic engineering. Medical Genetics Molecular genetics is the field of biology and genetics that studies the structure and function of genes at a molecular level. Medical Genetics Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. Medical Genetics Archaeogenetics, a term refers to the application of the techniques of molecular population genetics to the study of the human past. Medical Genetics Psychiatric genetics, a subfield of behavioral neurogenetics, studies the role of genetics in psychological conditions such as alcoholism, schizophrenia, and autism. Medical Genetics Quantitative genetics is the study of the inheritance of continuously measured traits (such as height or weight) and their mechanisms. Medical Genetics What is Medical Genetics? Medical genetics involves any application of genetics to medical practice . .It thus includes : 1- studies of the inheritance of diseases in families 2- mapping of disease genes to specific locations on chromosomes 3- analyses of the molecular mechanisms through which genes cause diseases 4- diagnosis and treatment of genetic disease. Medical Genetics • As a result of rapid progress in molecular genetics , gene therapy ( the insertion of the normal genes into patients in order to correct genetic disease ) is now possible . • Medical genetics also includes genetic counseling , which involves the communication of information regarding risks , prognoses , and treatments to patients and their families. Medical Genetics Genetic disease A. What is genetic disorder? A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. 2. 3. 4. congenital mode of inheritance population distribution familial Medical Genetics Down syndrome albinism Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. 2. 3. 4. congenital mode of inheritance population distribution familial Medical Genetics 3 Pedigree of Genetic Disease Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. 2. 3. 4. congenital mode of inheritance population distribution familial Medical Genetics x hemophilia (Blood clotting,to bleed) Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. 2. 3. 4. congenital mode of inheritance population distribution familial Medical Genetics • Family number of genetic disease. Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. 2. 3. 4. congenital mode of inheritance population distribution familial Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics Genetic disease Single-gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Medical Genetics 1-cystic fibrosis 2- fragile X syndrome 3- Sickle cell disease Medical Genetics In Cystic fibrosis: there is a three nucleotide deletion from the coding sequence. This will causes a deletion of Phenylalanine. Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics In chromosome disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered. Medical Genetics Medical Genetics Patau syndrome Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells. Medical Genetics Diagnosis &Treatment • Diagnosis: chromosome analysis • NO TREATMENT Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics Genetic disease Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes. Medical Genetics ??? Influence of environment on some traits Medical Genetics Obesity How these genes interact with environmental factors ?? Medical Genetics Fingerprints • Fingerprints: a polygenic trait • Dermatoglyphics: ridges on fingers, palm, toes, and feet • Influenced by prenatal environment – Nutrition of the mother – Rate of finger formation and growth Medical Genetics Others :diabetes, hypertension (high blood pressure), heart-related problems, arthritis, Alzheimer’s disease or even different cancers (breast cancer). Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics Genetic disease Somatic cell genetic diseases: result from the altered genetic materials in somatic cells. Like cancer. Medical Genetics Medical Genetics Genetic disease C. Classification of Genetic Disorders 1. 2. 3. 4. 5. single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders mitochondrial disorders Medical Genetics Genetic disease Mitochondrial genetic diseases: Due to the mutation of mitochondrial DNA. Like leber hereditary optic neuropathy LHON .(loss of central vision ) Medical Genetics leber hereditary optic neuropathy LHON . Medical Genetics