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Anatomy Chapter 25
Genetics and Genetic Diseases
| Question | Answer |
|---|---|
| genetic code is transmitted to offspring in discrete, independent units | genes |
| entire collection of genetic material in each typical cell of the human body | genome |
| the human genome contains how many genes | 20,000-25,000 |
| what percent of the DNA carries genes that code for proteins | 2% |
| remnant of our evolutionary past | pseudogenes |
| analysis of the genomes | genomics |
| the analysis of proteins | proteomics |
| entire group of proteins encoded by the human genome | proteome |
| cartoon of chromosome | ideogram |
| shorter segment of the chromosome | p-arm |
| longer segment of the chromosome | q-arm |
| sex chromosomes | 23 |
| autosomes | 46 |
| genetic variation | gametes with different sets of 23 chromosomes, independent assortment, and crossing-over |
| example of recessive trait | albinism |
| person can transmit the recessive gene to offspring | genetic carrier |
| two different dominant genes together | Codominance |
| determined by the genes in the large X chromosome, X-linked | sex-linked traits |
| examples of sex-linked traits | color blindness and hemophilia |
| change in genetic code | mutation |
| mutation are caused by | mutagens (chemicals, radiation, viruses) |
| individual mutant genes | single-gene disease |
| science that describes how environmental and behavioral factors may result in offspring with genetic traits that can't be explained by genes alone | epigenetics (imprinting) |
| triplet of autosomes, chromosomes fail to separate, nondisjunction (47) | trisomy |
| presence of only one autosome, (45) | monosomy |
| recessive gene in chromosome 7 that codes for CFTR. Sodium and Chloride. Exocrine cells secrete thick mucus and sweat | Cystic Fibrosis |
| caused by a recessive gene that fails to produce the enzyme phenylalanine hydroxylase | Phenylketonuria (PKU) |
| recessive condition involving failure to make a subunit of essential lipid-processing enzyme. | Tay-Sachs disease (TSD) |
| gene gets too long | fragile X syndrome (FXS) |
| chromosomal disorder that is a trisomy on chromosome 21 | Down Syndrome |
| genetic disorder with an XXY pattern | Klinefelter syndrome |
| occurs in females with a single sex chromosome, XO | Turner syndrome |
| chart that illustrates genetic relationships in a family over several generations | pedigree |
| grid used to determine probability of inheriting genetic traits | Punnett square |
| procedure in which fetal cells floating in the amniotic fluid are collected with a syringe | amniocentesis |
| use of viruses or bacteria to try to alter the DNA | gene augmentation |