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APHY 201 Exam 1f
Lab I - Beastly Genetics
| Question | Answer |
|---|---|
| what is the study of cellular constituents concerned with heredity? | cytogenics |
| what is the term for the transmission of genetic characteristics from parent to offspring? | herdity |
| what is the term for the chart of chromosomes at metaphase? | karyotype |
| what is the name/term for any chromosome that is not a sex chromosome? | autosome(s) |
| sperm and egg cells contain how many chromosomes? | 23 (haploid number) |
| which parent determines the sex of the baby? | father |
| what is a gene locus? | gene locus is the specific, physical location of a gene or DNA sequence on a chromosome, i.e., the exact "street address" where a specific gene resides |
| what is the plural term for the different forms of a gene at the same locus on 2 homologous (matching but not identical) chromosomes? | alleles |
| what is the name for the collective genetic makeup of an entire population aka all possible alleles of every possible gene in a population? | gene pool |
| distinguish between gene pool and genome. | gene pool is every possible allele in a population whereas genome is th whole set of DNA for a particular organism |
| relate the terms multiple alleles, codominance, and incomplete dominance to each other. | are all patterns of non-Mendelian inheritance that explain how genetic traits are expressed when typical dominant-recessive rules do not apply |
| what is codominance? | both alleles are expressed |
| what is incomplete dominance? | phenotype is intermediate between traits for each allele |
| take a red-and-white flower versus a pink flower. which is codominance and which expresses incomplete dominance? | the red and white exhibit both alleles fully, so that is codominance. the pink showcases incomplete dominance |
| familial hypercholesterolemia is an example of what kind of non-Mendelian inheritance? | incomplete dominance |
| what is the difference between multiple alleles and polygenic inheritance? | multiple alleles refer to the existence of more than two versions (alleles) of a single gene. conversely, polygenic inheritance describes a trait that is controlled by multiple different genes. |
| what is the term for when a single gene causes multiple phenotypic traits? | pleiotropy. ex) sickle-cell disease causing abnormal RBCs and anemia and enlarged spleen; aklaptonuria (faulty tyrosine breakdown) results in dark skin, urine, discolored teeth, etc. |
| what is the term for the percent of a population to express predicated phenotype given their genotypes? | penetrance |
| what is the role of the environment in brown eye color? | brown eye color requires phenylalanine from diet to produce melanin, the eye pigment |
| true or false: dominance and recessiveness of a allele do not determine frequency in a population | true, meaning a dominant allele such as for polydactyly can still be rare. dominant DNE common |
| which is the rarest out of autosomal dominant, autosomal recessive, sex-linked dominant, and sex-linked recessive? | sex-linked dominant |
| Marfan's syndrome is an example of what kind of Mendelian-inheritance disease? | autosomal dominant disease affecting connective tissue |
| achondroplastic dwarfism and osteogenesis imperfecta are examples of what kind of Mendelian-inheritance disease? | autosomal dominant disease affecting bones |
| familial hypercholesterolemia is an example of what kind of Mendelian-inheritance disease? | autosomal dominant disease affecting cardiovascular system |
| how does Marfan's syndrome work? | gene on chromosome 15 that codes for fibrillin is defective, so you get an elongated head with lumps, tall stature, hyperextensible joints, deformed eyeball, weakened/floppy mitral valve, leakage of blood from vessels, vertebral deformity, long fingers |
| what is fibrillin? | a connective tissue protein that forms the structural scaffolding of elastic fibers |
| what is the autosomal dominant disorder in which one is short in stature but has normally sized head and trunk? | achondroplastic dwarfism, a result of spontaneous mutation when DNA is replicated. mutant allele is dominant and can be inherited |
| how is pituitary dwarfism different from achondroplastic dwarfism? | it's not genetic but endocrinal in nature, with a lack of GH, can be treated |
| which autosomal dominant disease is called brittle bone disease and is characterized by poor quality collagen? | osteogenesis imperfecta, in which blue sclera demonstrates that such autosomal dominant diseases are often multisystemic |
| what is perhaps the most important autosomal dominant disorder? | familial hypercholesterolemia (fairly common)--leads to cardiovascular disease, esp. atherosclerosis and coronary heart disease |
| what are the mechanics of familial hypercholesterolemia? | LDL receptors are deficient, so cholesterol disposal becomes inefficient; deposition of cholesterol leads to fat-filled nodules in the skin called xanthomas. it is incurable but statins can prevent atherosclerosis with a low-fat diet |
| what are some important autosomal recessive disorders? | cystic fibrosis (most common lethal autosomal recessive disease), sickle cell anemia, Tay-Sachs disease (lipidosis) |
| what are the mechanics of cystic fibrosis? | chloride pumps w/ faulty CFTR protein fail to create adequate saline layer beneath mucus secreted by epithelial cells; sticky mucus plugs pancreatic ducts, intestine, and respiratory tract; obstruction of lumen leads to malabsorption of nutrients |
| hemophilia is an X-linked recessive disease. what are the 2 forms and which factor are they deficient in? | hemophilia A is due to Factor VIII deficiency; hemophilia B is due to Factor IX deficiency |
| what are the symptoms of hemophilia? | spontaneous bleeding or caused by minor trauma, difficulty coagulating the blood, hemarthrosis (bleeding into joints), cerebral hemorrhaging (now treatable) |
| what are the 2 forms of muscular dystrophy, an X-linked disease? | Duchenne-type dystrophy (more severe), Becker's dystrophy (less severe) |
| what are the symptoms of muscular dystrophy? | wasting of muscle causing progressive weakness, caused by defective dystrophin gene which helps hold cells together as they contract and relax |
| what is the term for familial diseases that are not inherited according to Mendelian genetics? | multifactorial inheritance |
| what does exogenous mean? | existing due to something outside a system |
| what are some multifactorial diseases? | dwarfism, mental retardation, hypertension, diabetes mellitus, gout, anencephaly, cleft lip and palate |
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elianayu
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