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10
Impact of Genomics
| Question | Answer |
|---|---|
| 1. Genetics | -Describes biologically inherited traits determined by elements of heredity (genes) transmitted from parents to offspring in reproduction |
| 2. Genomics | -The study of the chemical nature of genes and the ways that genes function to affect certain traits |
| 3. Genes | functional units of DNA |
| 4. Transcription | -Each gene has regulatory elements that control when that gene is active in producing messenger ribonucleic acid (mRNA) |
| 5. Translation | -mRNA is transported from the nucleus to the cytoplasm, where its genetic information is used to manufacture proteins |
| 6. The function of these proteins ultimately determine a person's.... | phenotype |
| 7. The remaining 22 pairs of chromosomes are called... (not sex chromosomes) | autosomes |
| 8. Over 460 phenotypes have been mapped to the... | (X chromosome) and 8 to the Y chromosome |
| 9. Exact location of a gene on a chromosome is known as its | locus |
| 10. Homologous copies of a gene are termed | alleles -When alleles are identical, the person is homozygous for that locus -When alleles are different despite functioning identically, the individual is heterozygousfor that locus |
| 11. Chromosomal abhorrations: | •Nondisjunction •Translocation/inversion •Deletions |
| 12. Germinal mutation | -Genetic change that occurs during egg or sperm formation |
| 13. •Somatic mutation | -Genetic change that occurs after conception (whether during embryogenesis or in adulthood) |
| 14. Nondisjunction | Failure of chromosomes to separate (disjoin) in a dividing cell during embryonic meiosis |
| 15. Polysomy | -More than three copies of the same chromosome are present (two or more extra chromosomes are present with the diploid pair) (4 or more) |
| 16. •Translocation/inversion | -Rearrangement of chromosome arms -May not interrupt coding sequence and may not have a phenotypic effect |
| 17. •Deletion | -Loss of chromosomal material (partial) -Almost always alters phenotype but effect may be small if only affects a single nucleotide |
| 18. Most diseases are ... and Occur from a combined action of alleles of more than one gene | polygenic |
| 19. Autosomal Dominant Inheritance | •Heterozygotes for the mutant allele show an abnormal phenotype •Males and females affected with equal frequency and severity |
| 20. Autosomal Recessive Inheritance | Males and females are affected with equal frequency and severity •Inheritance is from both parents, each of whom is a heterozygote (carrier) and each of whom is usually clinically unaffected by his or her carrier status |
| 21. X-linked Inheritance | •No male-to-male transmission of the phenotype •Unaffected males do not transmit the phenotype •All daughters of an affected male are heterozygous carriers •Males usually more severely affected than females |
| 22. •X-linked recessive -Examples: | •Color blindness, hemophilia A, Duchenne muscular dystrophy, Becker's muscular dystrophy, G6PD deficiency, Charcot-Marie-Tooth disease |
| 23. •X-linked dominant -Examples: | •X-linked hypophosphatemic rickets, Rett syndrome |
| 24. Human genome estimated to contain | 20,000 to 25,000 genes |
| 25. Embryonic | Implantation through gestational week 8 |
Created by:
kyliew2014
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