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| experimented with garden peas, manipulated breeding of pea plants by intentionally cross breeding plants, papers not discovered until 1900 |
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| units of information about specific traits. Has specific location on a chromosome. Passed from parent to offspring |
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| partner chromosomes. 1 maternal and 1 paternal |
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| different molecular forms of the same gene. gene may be for same trait but vary in information |
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| Prophase I of meiosis, exchange of genetic material between nonsister chromatids, leads to recombination |
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| 2 alleles of a pair are the same Ex HH or hh |
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| 2 alleles of a pair are different Ex hH or Hh |
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| alleles effect on a trait to masks the recessive |
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| Alleles effect masked by the dominant if two occur together |
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| genes present in an individual |
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| individuals observable traits |
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| rare, uncommon version of a trait. i.e. 6 toes on a foot |
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| results in mild-severe medical problems (a. rare mutations) (b. homozygous recessive produces problem) |
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| Invasion by bacteria or virus, not chromosomal |
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| Mendels Law of Segregation |
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| (1. diploid cells have pairs of genes) (2. during meiosis, each pair separates and they end up in different gametes) (3. how?- 1.monohybrid cross: 1 trait studied, 2. dihybrid cross study of two traits) |
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| one allele of a pair is not completely dominant over the other |
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| a pair of non identical alleles specify two phenotypes, both of which are expressed at the same time in heterzygotes |
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| receive from: A,O Donate to A,AB |
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| receive from: B,O donate to B,AB |
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| receive from: A,B,AB,or O (universal recipient) donate to:AB |
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| receive from: O donate to: A,B,AB or O (univeral donor) |
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| Multiple Effect of Single Genes (pleiotropy) |
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| a single genes exerts multiple effects on seemingly unrelated aspects on an individuals phenotype |
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| Fragile X syndrome & 3 results |
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| (most common cause of inherited mental retardation) *gene= FMR-1 on X chromosome. FMR-1 does not produce a protein. Results: mental retardation, long face, large ears |
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| True or False: Females are born with all eggs they will ever have which is apx. 456 eggs |
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| Genes are located on which chromosomes? |
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| color blindness, blood clotting (hemophilia), and muscular dystrophy |
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| Hemophilia and percentage in males |
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| blood clotting, bleed easily 1:7000 males |
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| colorblindness percentages |
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| Duchenne Muscular Dystrophy and percentage in males |
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Definition
muscle cells waste and muscles enlarge with fat and connective tissue 1:3700 males |
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| Symptoms of Duchenne Muscular Dystrophy |
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Definition
| start from age 2-10. cant walk by 12; die in early 20's or respiratory failure, no cure |
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Definition
| any of the chromosomes that are of the same number and kind in both males and females... not X or Y chromosomes... all others |
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| protein that transports oxygen in red blood cells |
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| lactose breakdown is blocked, leading to high levels of galactose. can damage eyes and liver. |
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| progressive deteriation of nervous system; symptoms may not be present til after 40. Wexeler studied because both parents had it |
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1:8,000,000 new borns (JACK) Symptoms: accelerated aging and premature death. NO CURE |
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| +1 or -1 chromosome. Cause of most human miscarriages |
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| 3 or more of each chromosomes, 50%flowers, as well as some fish and insects. Humans = lethal |
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| one or more pairs of chromosomes, fail to separate during mitosis or meiosis (largest cause of chromosome changes) |
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| Examples of changes in Chromosome #s |
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Definition
| Downs Syndrome, Turners Syndrome, klinefelter Syndrom, and XYY condition |
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| Down's Syndrome (aneuploidy) |
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| Trisomy 21 (3 # 21s). Effects: mental impairment, heart defects, loose joints, slow speech development |
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| sex chromosome = XO (missing X chromosome) Effects:short, infertile. sometimes hormone therapy helps |
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XXY. male 1:500-2000 Effects: taller, nearly sterile, feminized trait, possible mild mental impairments Treatment:testosterone therapy |
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| 1:1000 males. Effects: tall, maybe mild mental impairment |
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| Chromosome Region Deletion |
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Definition
| one or more genes lost Cause: virus, radiation, chemicals?? |
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| missing 1 chromosome #5. Effects: meow instead of cry, and mental impairment |
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| Chromosome Inversion & Translocation |
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Definition
| one chromosome exchanges pieces with a non-homologous chromosome i.e. cancer |
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| normal chromosomes may contain copies of same code |
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| waterproof membrane that surrounds fetus and holds amniotic fluid |
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| Know the steps of amniocentesis |
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Definition
| just know'em too much to type |
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Term
| Fetal cells from maternal blood |
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Definition
| 6-12 weeks, take fetal cells from mothers blood. good not an invasive procedure |
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