Atlas of 36 OHP Transparencies size 22 x 28 cm, comprising 116 colour pictures, some with several component figures (drawings, diagrams, tables, graphs, anatomical pictures, photomicro- and macrographs, electron micrographs, clinical appearance of patients, pedigrees, karyotypes).
Part 3. Molecular genetics, statistic genetics. The principles of molecular genetics. The new molecular techniques in medical genetics and genetic counselling. Aspects of population genetics, mutations and blood groups. - 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
anemia - Indirect diagnosis of genotypes. Example: sickle cell anemia - Ditto. Example: spinal
muscular atrophy - Direct diagnosis of genotypes. Example: mucoviscidosis - Gene map of the X
-chromosome - Diagram of fluorescence-in-situ-hybridization - 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 tumors 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
Part 4. Genetic counselling and prenatal diagnosis. Principles of genetic counselling and prenatal diagnostic, effects of damage to the fetus, 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, fetal blood sampling - Diagram of
germ cell development of a balanced 14;21 translocation - Ditto. 12;21 translocation -
B. Teratogenetic injury to the fetus - Appearance of alcohol embryopathy - Characteristics of
alcohol embryopathy - Appearance of hydantoin-barbiturate embryopathy - Appearance of
thalidomide embryopathy - Influence of maternal PKU to the fetus - 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 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 monozygotic twins, front view and profile - Oral
aspect of the monozygotic twins - Atypical adult monozygotic twins, front view and profile - Eye
regions of monozygotic twins - Structure of the iris of monozygotic twins - Noses of
monozygotic twins - Siamese twins - Incomplete conjoined twins - Experimental production of
complete and incomplete uniovular twins during the early development of amphibians - Dizygotic
twins, front view and profile - Eye regions of dizygotic twins - Structure of the iris of dizygotic
twins - Ears and hands of dizygotic twins - Dermatoglyphics of monzygotic and dizygotic twins -
DNA-fingerprints of identical and fraternal twins - Monozygotic triplets - Eye regions and ears of
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.
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