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Preparation Guide for Concluding Test II Page 1 of 5 Preparation Guide for Concluding Test II 1. Define the terms and find examples for each case: Term Definition Monogenic trait Poligenic trait Monofactorial trait Multifactorial trait Normal trait Pathologic trait Dominant trait Recessive trait Intermediate trait Autosomal trait Gonosomal trait Holandric trait Monogenic determination Monoallelic determination Pleiotropy Polygeny Penetrance Uniparental disomy Allele heterogeneity Locus heterogeneity Expressivity Epistasy Genomic imprinting Anticipation Example Preparation Guide for Concluding Test II Page 2 of 5 Genocopy Phenocopy Norm of reaction Genomic mutation Chromosomal mutation Gene mutation 2. Levels of expression of different structural genes: Levels of Expression Gene primary DNA-polymerase RNA-polymerase Catalase Spectrin Rh Melanin FBN1 PAH Insulin ABL Ig Alcohol dehydrogenase F8 F9 CFTR secondary tertiary Preparation Guide for Concluding Test II Page 3 of 5 3. Complete the table and try to compare different types of mutations. Mutation Genetic Modification Phenotype Samesens mutation Missens mutation nonsens mutation sens mutation Transition Transversion Amorphic mutation Hypomorphic mutation Neomorphic mutation Hypermorphic mutation Isomorphic mutation Exonic mutation Intronic mutation 4. Identify the origin of aneuploidy: Mother Father Child 46,XX (Xg-) 46,XY (Xg+) 47,XXY (Xg-) 47,XXY (Xg+) 45,X (Xg-) 46,XX (Xg+) 46,XY (Xg-) 45,X (Xg-) 47,XXX (Xg-) 46,XX (Xg+) 46,XY (Xg-) 47,XXX (Xg+) 47,XXY (Xg-) 45,X (Xg+) Origin of Aneuploidy Example Preparation Guide for Concluding Test II Page 4 of 5 5. Analyze each couple and assess the risk of HDNB at their children. Parents Children Mother Father Family History Genotype Phenotype Genotype Phenotype Genotype Phenotype Father’s sister Rh+ Rhsuffered from HDNB Mother’s older brother suffered Rhfrom HDNB, while the mother did not Mother’s older sister suffered Rh+ from HDNB, while the mother did not Father’s sister RhRh+ suffered from HDNB Rh+ Rh- Mother’s farther is Rh- HDNB in childhood Rh+ The father is homozygote Rh- The father suffered from HDNB Rh+ Father is unknown 6. Complete the table: Genetic Pathology monogenic disease polygenic disease monogenic syndrome X-fragile (FMR1) s. Marfan s. Angelman s. Prader-Willi s. PKU DMD Hemophilia A Hemophilia B Acondrodysplasia Hungtington disease Hypercholesterolemia ADPKD Mucoviscidosis Diabetis mellitus Schizophrenia Possible Causes Genealogic Transmission HDNB Risk Genetic Diagnostic Preparation Guide for Concluding Test II 7. Find several criteria for classification: - hereditary traits - variability - mutations - gene mutations - methods of gene analysis 8. Monogenic diseases (PKU, Marfan s., Hemophilia A, etc.): a. Cause b. Manifestation: i. At molecular level ii. At cellular level iii. At level of organism c. Characteristic of mutations; d. Identification of genetic phenomena: i. Expressivity ii. Penetration iii. Pleiotropy iv. Genetic heterogeneity e. Genealogic inheritance i. Type of inheritance ii. Genotype of affected persons f. Genetic diagnostic g. Prophylaxis 10. Explain genetic phenomena involved in manifestation of a gene: a. Gene interactions - Allelic - Non-allelic b. Gene penetrance - Complete - incomplete c. Pleiotropy - Primary - Secondary d. Genetic heterogeneity - Allelic - Non-allelic e. Gene expression dependent on parental origin - Genomic imprinting - MUD; PUD f. Variable expressivity - different levels of manifestation of a trait at different people - different forms of a trait at different people - anticipation Page 5 of 5
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