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Genetics Exam 2 Study Guide: Sex Determination, Chromosomal Variation, DNA Structure, Replication, Transcription, and Translation

Study Guide - Smart Notes

Tailored notes based on your materials, expanded with key definitions, examples, and context.

{"type":"doc","content":[{"type":"heading","attrs":{"textAlign":null,"level":2},"content":[{"type":"text","text":"Sex Determination & Sex Chromosomes"}]},{"type":"heading","attrs":{"textAlign":null,"level":3},"content":[{"type":"text","text":"Human Sex Determination"}]},{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Sex determination in humans involves both chromosomal composition and gene expression. The genotypic sex is defined by the sex chromosomes (XX for female, XY for male), while phenotypic sex refers to the observable physical and reproductive traits."}]},{"type":"bulletList","content":[{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Genotypic sex:"},{"type":"text","text":" XX (female), XY (male)"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Phenotypic sex:"},{"type":"text","text":" Physical characteristics determined by gene expression"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"SRY gene:"},{"type":"text","text":" Located on the Y chromosome; encodes testis-determining factor (TDF) and initiates male development"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Pseudoautosomal regions (PARs):"},{"type":"text","text":" Regions on X and Y chromosomes that can recombine during meiosis"}]}]}]},{"type":"heading","attrs":{"textAlign":null,"level":4},"content":[{"type":"text","text":"Homogametic vs. Heterogametic"}]},{"type":"table","content":[{"type":"tableRow","content":[{"type":"tableHeader","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Term"}]}]},{"type":"tableHeader","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Meaning"}]}]},{"type":"tableHeader","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Human Example"}]}]}]},{"type":"tableRow","content":[{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Homogametic"}]}]},{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Two like sex chromosomes"}]}]},{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"XX"}]}]}]},{"type":"tableRow","content":[{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Heterogametic"}]}]},{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Two unlike sex chromosomes"}]}]},{"type":"tableCell","attrs":{"colspan":1,"rowspan":1,"colwidth":null,"align":null},"content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"XY"}]}]}]}]},{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Additional info:"},{"type":"text","text":" Other organisms use different systems, e.g., ZW/ZZ in birds."}]},{"type":"heading","attrs":{"textAlign":null,"level":3},"content":[{"type":"text","text":"Sex-Linked Inheritance"}]},{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Traits linked to sex chromosomes, especially the X chromosome, show unique inheritance patterns. Males are hemizygous for X-linked genes, meaning they have only one copy."}]},{"type":"bulletList","content":[{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"X-linked recessive inheritance:"},{"type":"text","text":" Males express the trait if they inherit the allele; females can be carriers"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Punnett squares:"},{"type":"text","text":" Used to predict probabilities of affected offspring"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Example:"},{"type":"text","text":" Red-green color blindness"}]}]}]},{"type":"heading","attrs":{"textAlign":null,"level":3},"content":[{"type":"text","text":"Nondisjunction"}]},{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Nondisjunction is the failure of chromosomes to separate properly during meiosis, resulting in abnormal chromosome numbers."}]},{"type":"bulletList","content":[{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Klinefelter syndrome:"},{"type":"text","text":" 47, XXY; phenotypically male, infertility, breast development"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Turner syndrome:"},{"type":"text","text":" 45, X; phenotypically female, underdeveloped ovaries, short stature"}]}]},{"type":"listItem","content":[{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","marks":[{"type":"bold"}],"text":"Other syndromes:"},{"type":"text","text":" 47, XXX (Triple X), 47, XYY (Jacobs syndrome)"}]}]}]},{"type":"heading","attrs":{"textAlign":null,"level":3},"content":[{"type":"text","text":"X-Inactivation, Barr Bodies & Lyon Hypothesis"}]},{"type":"paragraph","attrs":{"textAlign":null},"content":[{"type":"text","text":"Dosage compensation ensures equal expression of X-linked genes. 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