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HUMAN GENETICS - PART 1....continued Modes of Inheritance: The series of transparencies covers the basic knowledge of formal genetics, illustrated with examples of medical genetics. 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. Autosomal dominant inheritance - Autosomal dominant inheritance - Clinical appearance of neurofibromatosis, multiple fibromas - Ditto., cafe au lait spots - Pedigree of a family with neurofibromatosis - Clinical appearance of cleft hand - Pedigree of a family with cleft hand - Pedigree of a family with achondroplasia - Codominant mode of inheritance (AB0 blood groups) - B. Autosomal recessive mode of inheritance - Autosomal recessive mode of inheritance - Probability of being heterozygous for the relatives of a homozygous individual - Clinical appearance of albinism - Albinism in animals - Pedigree of a family with albinism - The decomposition of phenylalanine - Pedigree of a family with phenylketonuria (pseudodominance) - Pedigree of a family with deafmutism (genetic heterogeneity) - Heterozygosity-effects - C. X-chromosomal inheritance - X-chromosomal recessive inheritance - Colour plate for testing red-green-blindness - Pedigree of a family with red-green-blindness - Clinical appearance of muscular dystrophy of Duchenne type - Structure of the gene of muscular dystrophy - Examples of changing's on deletions in the dystrophin gene - Pedigree of families with muscular dystrophy - Clinical appearance of haemophilia - Haemophilia A in the European aristocracy - X-chromosomal dominant inheritance - Clinical appearance of incontinentia pigmenti (Bloch-Sulzberger syndrome) - Pedigree of a family with incontinentia pigmenti - D. Multifactorial inheritance - Multifactorial inheritance (effect of threshold value) - Recurrence risks of multifactorial inheritance - Clinical appearance of harelip and cleft palate - Harelip and cleft palate due to amniotic bands - Different causes of harelip and cleft palate - Clinical appearance of the van der Woude syndrome - Pedigree of a family with van der Woude syndrome - Clinical appearance of neural tube defects, spina bifida - Ditto. anencephalus Clinical appearance of clubfoot - Ditto. of psoriasis - Example of pyloric stenosis illustrating the so-called "Carter-effect" - E. Mitochondrial inheritance - Mitochondrial inheritance - Pedigree of a family with Leber’s optic atrophy Cytogenetics: Part II illustrates various types of human cell cultures, the preparation of sex-chromatin (X- and Y-chromatin) in normal and pathological states through analysis of Barr-bodies, drumsticks and F-bodies. It also includes the analysis of metaphase chromosomes by various banding techniques, including NOR- and SCE-methods, and the most common types of chromosomal aberrations and the phenotypic consequences. Secondary chromosomal aberrations following exposure to clastogens and illustrating repair defects are shown. The series ends with examples from the field of tumourcytogenetics: leukemias and solid tumours. - Compilation and text: Dr. rer. nat. Ulrike Gamerdinger, Dipl.-Biol. Katja Weiske and Prof. Dr. Gesa Schwanitz (Institut für Humangenetik, Universität Bonn). A. Cell cultures - Lymphocyte culture - Tissue culture - Clones in tissue culture - Mitotic activity in tissue culture - B. Sex chromatin - Barr bodies in cells of the hair bulb - Drumstick in a mature segmented granulocyte - Two Barr bodies; karyotype 47,XXX - F-body in a human lymphocyte - Two F-bodies; karyotype 47,XYY - C. Chromosome staining and banding techniques - Uniform staining - GTG-banding pattern - QFQ-banding pattern - RBA-banding pattern - C-banding pattern - SCE (sister-chromatid-exchange) - Nucleolus organizing region (NOR), silver staining - Normal karyotype with GAG banding pattern - Paris nomenclature of chromosomes - D. Chromosomal aberrations - Trisomy 21; karyotype - Boy with Down’s syndrome - Simian crease in a boy with Down’s syndrome - Karyotype of a patient with translocation trisomy 21 - Trisomy 13; karyotype - Trisomy 18; karyotype - Ring chromosome 18; karyotype - Isochromosome X; karyotype - Inversion 2; karyotype - Karyotype of a girl with "cri-du-chat" syndrome - Child with "cri-du-chat" syndrome - Pedigree of a family showing segregation of a reciprocal translocation - Monosomy X; karyotype - Patient with Turner’s syndrome (monosomy X) - Klinefelter’s syndrome; karyotype - Risk for the birth of a child with chromosome aneuploidy - Chromosomal findings in spontaneous abortions - Triploidy; karyotype - Alterations of chorionic villi due to triploidy - E. Mutagenesis, clastogenes, tumour cytogenetics - Increased SCE rate - Mitosis with multiple aberrations - Diagram of aberration types - Micronuclei - Unspecific chromosome aberrations - Table of chromosome breakage syndromes - Philadelphia chromosome in chronic myeloic leukaemia - Marker chromosomes in solid tumours. |