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Download I. The Emerging Role of Genetics and Genomics in Medicine
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Shier, Butler, and Lewis: Hole’s Human Anatomy and Physiology, 10 th ed. Chapter 24: Genetics and Genomics Chapter 24: Genetics and Genomics I. The Emerging Role of Genetics and Genomics in Medicine A. Genetics is ____________________________________________________________ B. Genes are _____________________________________________________________ C. Chromosomes are ______________________________________________________ D. A gene’s nucleotide sequence tells a cell ____________________________________ ________________________________________________________________________ E. A genome is ___________________________________________________________ F. Somatic cells have ______________________________________________________ G. Diploid means _________________________________________________________ H. Sex cells have _________________________________________________________ I. Haploid means _________________________________________________________ J. Genomics is ___________________________________________________________ K. Proteonomics focuses on _________________________________________________ ________________________________________________________________________ L. Environmental factors that affect how genes are expressed are ___________________ ________________________________________________________________________ II. Modes of Inheritance A. Introduction 1. The probability that a certain trait will occur in the offspring of two individuals can be determined by ________________________________________________ __________________________________________________________________ B. Chromosomes and Genes Come in Pairs 1. Karyotypes are ___________________________________________________ __________________________________________________________________ 2. Autosomes are ___________________________________________________ 3. Sex chromosomes are _____________________________________________ __________________________________________________________________ 24-1 4. Most chromosomes contain ___________________________________ genes. 5. Alleles are ______________________________________________________ 6. Homozygous alleles are ____________________________________________ 7. Heterozygous alleles are ___________________________________________ 8. Genotype is _____________________________________________________ 9. Phenotype is _____________________________________________________ 10. A wild type allele is ______________________________________________ 11. A mutant allele is ________________________________________________ C. Dominant and Recessive Inheritance 1. A dominant allele is _______________________________________________ 2. A recessive allele is _______________________________________________ __________________________________________________________________ 3. An autosomal gene is located _______________________________________ 4. An X-linked gene is located _________________________________________ 5. A Y-linked gene is located __________________________________________ 6. Mode of inheritance refers to ________________________________________ __________________________________________________________________ 7. An autosomal condition is equally likely to affect _______________________ 8. X-linked characteristics affect _______________________________________ 9. Recessive conditions can skip a generation because ______________________ __________________________________________________________________ 10. Dominant conditions do not skip generations because ___________________ __________________________________________________________________ 11. The disease ____________________________ is an example of an autosomal recessive disorder. 12. If both parents are heterozygotes for the trait that causes cystic fibrosis, there is a ________________ chance that their offspring will be homozygous dominant, a _____________________________ chance their offspring will be heterozygous, and a __________________ chance their offspring will be homozygous recessive. 13. A Punnet square is _______________________________________________ __________________________________________________________________ 24-2 14. A pedigree is ___________________________________________________ __________________________________________________________________ 15. An example of an autosomal dominant disorder is ______________________ __________________________________________________________________ D. Different Dominance Relationships 1. Incomplete dominance is ___________________________________________ __________________________________________________________________ 2. An example of a trait inherited through incomplete dominance is ___________ __________________________________________________________________ 3. Codominant means________________________________________________ __________________________________________________________________ 4. The genotypes of individuals with the following blood types are: type A type B type AB type O III. Gene Expression A. Introduction 1. The same allele combination can produce different phenotypes because ______ __________________________________________________________________ 2. A major goal of genomics is ________________________________________ __________________________________________________________________ B. Penetrance and Expressivity 1. Completely penetrant means ________________________________________ __________________________________________________________________ 2. Incompletely penetrant means _______________________________________ __________________________________________________________________ 3. A phenotype is variably expressive if _________________________________ __________________________________________________________________ 24-3 C. Pleiotropy 1. Pleiotropy is _____________________________________________________ __________________________________________________________________ 2. An example of a disease that exhibits pleiotropy is _______________________ D. Genetic Heterogeneity 1. Genetic heterogeneity is ____________________________________________ __________________________________________________________________ 2. An example of a condition that exhibits genetic heterogeneity is ____________ __________________________________________________________________ IV. Complex Traits A. Monogenic means ______________________________________________________ B. Polygenic means _______________________________________________________ C. Variations in height are due to ____________________________________________ ________________________________________________________________________ D. Variations in skin color are due to _________________________________________ ________________________________________________________________________ E. Variations in eye color are due to __________________________________________ ________________________________________________________________________ F. Complex traits are ______________________________________________________ G. Examples of complex traits are ____________________________________________ V. Matters of Sex A. Introduction 1. A human female is termed homogametic because ________________________ __________________________________________________________________ 2. A human male is termed heterogametic because _________________________ __________________________________________________________________ B. Sex Determination 1. A male is conceived when __________________________________________ __________________________________________________________________ 2. A female is conceived when ________________________________________ __________________________________________________________________ 24-4 3. The gene responsible for being male is ________________________________ C. Sex Chromosomes and Their Genes 1. The X chromosome has ______________________________________ genes. 2. The Y chromosome has ______________________________________ genes. 3. The three groups of Y-linked genes are ________________________________ __________________________________________________________________ __________________________________________________________________ 4. Y-linked genes are transmitted from father to ___________________________ 5. Any gene on the X chromosome of a male is expressed in his phenotype because __________________________________________________________________ 6. An allele on an X chromosome of a female may or may not be expressed because __________________________________________________________________ __________________________________________________________________ 7. The male is said to be hemizygous for X-linked traits because ______________ __________________________________________________________________ 8. Examples of X-linked recessive traits are ______________________________ __________________________________________________________________ 9. If a mother is heterozygous for a particular X-linked gene, her son has a _____ ________________________________ chance of inheriting either allele from her. 10. X-linked genes are passed on from __________________________________ 11. A daughter can inherit an X-linked disorder only if ______________________ __________________________________________________________________ D. Gender Effects and Phenotypes 1. A sex-linked trait is _______________________________________________ __________________________________________________________________ 2. Sex-influenced inheritance is ________________________________________ __________________________________________________________________ 3. A heterozygous male is bald and a heterozygous female is not bald because ___ __________________________________________________________________ 4. Genomic imprinting is _____________________________________________ __________________________________________________________________ 24-5 VII. Chromosome Disorders A. Polyploidy 1. Polyploidy is ____________________________________________________ __________________________________________________________________ 2. Polyploidy results from ____________________________________________ __________________________________________________________________ 3. The fate of a polyploid human is _____________________________________ B. Aneuploidy 1. Aneuploid means _________________________________________________ 2. Euploid means ___________________________________________________ 3. Anueploidy results from ___________________________________________ 4. Nondisjunction is _________________________________________________ __________________________________________________________________ 5. Autosomal aneuploidy often results in ________________________________ __________________________________________________________________ 5. Trisomy is ______________________________________________________ 6. Monosomy is ____________________________________________________ 7. Translocation is __________________________________________________ __________________________________________________________________ 8. Trisomy 21 is known as ____________________________________________ 9. Other common autosomal trisomies are _______________________________ 10. Turner syndrome results from ______________________________________ 11. Klinefelter syndrome results from ___________________________________ 12. Jacobs syndrome results from ______________________________________ C. Prenatal Tests 1. An ultrasound can detect ___________________________________________ __________________________________________________________________ 2. Amniocentesis is ______________________________________________ and can detect _________________________________________________________ 3. Chorionic villus sampling is _____________________________________ and can detect _________________________________________________________ 24-6 4. Maternal serum markers can detect ___________________________________ __________________________________________________________________ 5. Fetal cell sorting is _____________________________________________ and can detect _________________________________________________________ VIII. Gene Therapy A. Introduction 1. Functions of gene therapy are _______________________________________ __________________________________________________________________ 2. Gene therapy operates at ___________________________________________ B. Two Approaches to Gene Therapy 1. Two basic types of gene therapy are __________________________________ __________________________________________________________________ 2. Heritable gene therapy is ___________________________________________ __________________________________________________________________ 3. Heritable gene therapy is most commonly performed in ___________________ 4. Nonheritable gene therapy is ________________________________________ __________________________________________________________________ 5. A nonheritable gene therapy for cystic fibrosis is ________________________ __________________________________________________________________ C. Tools and Targets of Gene Therapy 1. Introduction a. Some tools of gene therapy are ________________________________ ____________________________________________________________ b. The challenge in nonheritable gene therapy is _____________________ ____________________________________________________________ 2. Bone Marrow a. Bone marrow tissue includes __________________________________ b. Many new gene therapy targets might be reached by bone marrow because ____________________________________________________________ ____________________________________________________________ 24-7 3. Skin a. In the laboratory, skin cells grow _______________________________ b. Skin grafts can be used to ____________________________________ ____________________________________________________________ 4. Muscle a. The reasons muscle tissue is a good target for gene therapy are _______ ____________________________________________________________ ____________________________________________________________ b. Treatments of Duchenne muscular dystrophy are __________________ ____________________________________________________________ 5. Endothelium a. Endothelium is _____________________________________________ b. Endothelium can be altered to _________________________________ ____________________________________________________________ 6. Liver a. The liver is a very important focus of gene therapy because __________ ____________________________________________________________ b. Liver cells that are genetically altered can relieve __________________ ____________________________________________________________ 7. Lungs a. The respiratory tract is an excellent candidate for gene therapy because ____________________________________________________________ ____________________________________________________________ b. A form of gene therapy used to treat emphysema is ________________ ____________________________________________________________ 8. Nerve Tissue a. Gene therapy of neurons is not feasible because ___________________ ____________________________________________________________ b. Routes of nerve cell gene therapy could include ___________________ ____________________________________________________________ 24-8 9. Gene Therapy Against Cancer a. Glioma is _________________________________________________ ____________________________________________________________ b. A gene therapy approach for glioma is __________________________ ____________________________________________________________ c. Another genetic approach to battling cancer is to __________________ ____________________________________________________________ D. CODA 1. Gene discoveries have shed light on __________________________________ __________________________________________________________________ 2. Gene products interact with _________________________________________ __________________________________________________________________ 24-9