Molecular Genetics, Statistic Genetics: Part III starts with an introduction into the principles of molecular genetics. Main emphasis is put on the application of the new molecular techniques in medical genetics and genetic counselling. Aspects of population genetics, mutations and blood groups are furthermore described. - Compilation and text: Prof. Dr. med. Klaus Zerres (Institut für Humangenetik, Universität Bonn) and Prof. Dr. med. Tiemo Grimm (Institut für Humangenetik, Universität Würzburg). A. Molecular genetics, statistic genetics  - From DNA to chromosomes - Genetic code - Restriction enzymes - Evidence of DNA sequences by Southern-blots - Polymorphisms of restriction fragments (RFLP) in Southern-blots - Ditto. and CA repeats as molecular markers - Polymerase chain reaction (PCR) - Indirect diagnosis of genotypes. Example: muscular dystrophy of Duchenne type - Direct diagnosis of genotypes. Example: Ditto. - Erythrocytes in sickle cell anaemia - Indirect diagnosis of genotypes. Example: sickle cell anaemia - Ditto. Example: spinal muscular atrophy - Direct diagnosis of genotypes. Example: mucoviscidosis - Gene map of the X-chromosome - Diagram of fluorescence-in-situ-hybridisation - Proof of a deletion in the elastin-gene on Williams-Beuren-Syndrom by FISH - Mode of operation and therapy of hereditary diseases - Therapy of mucoviscidosis - Germ line therapy and somatic gene therapy - Problems and risks on gene transfer - Principles of somatic gene therapy - B. Population genetics, mutations - Crossing over - Linkage analysis, segregation of two loci with independent inheritance - Ditto. with dependent inheritance - Ditto. with possible crossing-over - Calculation of lodscore-data for linkage analysis - Linkage analysis, example Chorea Huntington - Law of Hardy and Weinberg - IQ of couples, an example of assortative mating - Rate of frequency of homozygotes and heterozygotes - Types of mutation - Mutation rates of autosomal dominant inheritance and X-chromosomal recessive inheritance - Role of paternal age in case of new mutations - Newborn with Apert’s syndrome - Pedigree with autosomal dominant mutation (aniridia) - Congenital lack of the iris (aniridia) - Diagram of oogenesis - Diagram of spermatogenesis - Molecular genetic evidence for germ cell mosaicism in case of muscular dystrophy (Duchenne type) - Unstable trinucleotid-mutations, a new type of mutations - Imprinting, parent-specific loss of gene function causing hereditary diseases - Origin of tumours according to Knudson’s two hit model - C. Blood groups - Determination of AB0 blood groups - Positive and negative reactions in AB0 blood group determination - Genotypes and phenotypes in AB0 blood groups - Inheritance of AB0 blood groups - Exclusion of paternity by AB0 blood groups - DNA fingerprints as evidence of paternity - Importance of Rh-incompatibility for blood-donors and during pregnancy - The HLA gene complex on chromosome 6 - HLA linkage with the adreno-genital syndrome (AGS) in a family - HLA associations in various diseases.

Genetic Counselling and Prenatal Diagnosis: The subject of this series includes principles of genetic counselling and prenatal diagnostic, effects of damage to the foetus, calculation of risks, genetics of behaviour, twin research. - Compilation and text: Prof. Dr. med. K. Zerres (Institut für Humangenetik, Universität Bonn) and Prof. Dr. med. T. Grimm (Institut für Humangenetik, Universität Würzburg) A. Genetic counselling and prenatal diagnosis - Indications for genetic counselling - Concepts of genetic counselling - Recurrence risk in a family, if only one child is affected - Potential consequences after genetic counselling - Neural tube defect as seen with ultrasound - Maternal serum-AFP-level during normal pregnancy and with a neural tube defect - Indications for prenatal diagnosis - Biopsy of chorionic villi - Amniocentesis, foetal blood sampling - Diagram of germ cell development of a balanced 14;21 translocation - Ditto. 12;21 translocation - B. Teratogenetic injury to the foetus - Appearance of alcohol embryopathy - Characteristics of alcohol embryopathy - Appearance of hydantoin-barbiturate embryopathy - Appearance of thalidomide embryopathy - Influence of maternal PKU to the foetus - Appearance of rubella embryopathy - Time-table of the development of organs and sensitivity teratogens - C. Estimated risk - Everyday risks - Bayes’ theorem in case of incomplete penetrance - Balance between mutation and selection in case of lethal X-chromosomal inheritance - Estimated risk in case of lethal X-chromosomal inheritance - Consanguinity (inbreeding coefficient) - Frequency of homozygotes and heterozygotes in autosomal-recessive inheritance - Estimated risk on consanguinity and autosomal recessive inheritance - D. Behaviour genetics - Twin research - Pedigree of the Bach family - Pedigree of the Darwin- Galton family - What is intelligence? - Frequency distribution of I.Q. values - Frequency distribution of I.Q. values in siblings of persons with different degrees of mental defects - Cytogenetics and clinical appearance of the fragile-X-syndrome - Correlation of I.Q. depending on the degree of relationship - Heritability - I.Q. test data of identical (monozygotic) twins - Twin data depending on school performance - I.Q. test data of female twins above 60 years of age - Position of twins in the uterus - Typical adult identical (monozygotic) twins, front view - Typical adult identical (monozygotic) twins, profile - Oral aspect of the identical (monozygotic) twins - Atypical adult identical (monozygotic) twins, front view - Atypical adult identical (monozygotic) twins, profile - Eye regions of identical (monozygotic) twins - Structure of the iris of identical (monozygotic) twins - Noses of identical (monozygotic) twins, view from the bottom - Siamese twins - Incomplete conjoined twins - Experimental production of complete and incomplete uniovular twins during the early development of amphibians - Fraternal (dizygotic) twins, front view - Fraternal (dizygotic) twins, profile - Eye regions of fraternal (dizygotic) twins - Structure of the iris of fraternal (dizygotic) twins - Ears of fraternal (dizygotic) twins - Hands of fraternal twins - Dermatoglyphics of identical and fraternal twins - DNA-fingerprints of identical and fraternal twins - Identical (monozygotic) triplets - Eye regions of the identical (monozygotic) triplets - Ears of identical (monozygotic) triplets - Twin findings in endogenous psychosis - Family findings in schizophrenia depending on the proportion of common genes - Comparison of concordance rates in manic depressive twins - Family findings in manic-depressive psychosis depending on the share of common genes - Reasons for and frequency of twin pregnancy.