Genetics and Genetic Diseases
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| genetic code is transmitted to offspring in discrete, independent units | genes
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| entire collection of genetic material in each typical cell of the human body | genome
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| the human genome contains how many genes | 20,000-25,000
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| what percent of the DNA carries genes that code for proteins | 2%
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| remnant of our evolutionary past | pseudogenes
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| analysis of the genomes | genomics
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| the analysis of proteins | proteomics
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| entire group of proteins encoded by the human genome | proteome
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| cartoon of chromosome | ideogram
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| shorter segment of the chromosome | p-arm
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| longer segment of the chromosome | q-arm
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| sex chromosomes | 23
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| autosomes | 46
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| genetic variation | gametes with different sets of 23 chromosomes, independent assortment, and crossing-over
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| example of recessive trait | albinism
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| person can transmit the recessive gene to offspring | genetic carrier
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| two different dominant genes together | Codominance
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| determined by the genes in the large X chromosome, X-linked | sex-linked traits
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| examples of sex-linked traits | color blindness and hemophilia
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| change in genetic code | mutation
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| mutation are caused by | mutagens (chemicals, radiation, viruses)
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| individual mutant genes | single-gene disease
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| 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)
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| triplet of autosomes, chromosomes fail to separate, nondisjunction (47) | trisomy
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| presence of only one autosome, (45) | monosomy
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| recessive gene in chromosome 7 that codes for CFTR. Sodium and Chloride. Exocrine cells secrete thick mucus and sweat | Cystic Fibrosis
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| caused by a recessive gene that fails to produce the enzyme phenylalanine hydroxylase | Phenylketonuria (PKU)
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| recessive condition involving failure to make a subunit of essential lipid-processing enzyme. | Tay-Sachs disease (TSD)
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| gene gets too long | fragile X syndrome (FXS)
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| chromosomal disorder that is a trisomy on chromosome 21 | Down Syndrome
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| genetic disorder with an XXY pattern | Klinefelter syndrome
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| occurs in females with a single sex chromosome, XO | Turner syndrome
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| chart that illustrates genetic relationships in a family over several generations | pedigree
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| grid used to determine probability of inheriting genetic traits | Punnett square
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| procedure in which fetal cells floating in the amniotic fluid are collected with a syringe | amniocentesis
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| use of viruses or bacteria to try to alter the DNA | gene augmentation
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