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How do chromosomes carry genes, and what happens when their inheritance goes wrong?

Topic 5.6 Chromosomal Inheritance: explain the chromosomal basis of inheritance, including sex determination and the consequences of nondisjunction.

A focused answer to AP Biology Topic 5.6, covering the chromosome theory of inheritance, sex determination, linkage, nondisjunction and aneuploidy, with a worked example of nondisjunction.

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  1. What this topic is asking
  2. The chromosome theory and sex determination
  3. Linkage
  4. Nondisjunction and aneuploidy
  5. Try this

What this topic is asking

The College Board (Topic 5.6) wants you to explain the chromosomal basis of inheritance: that genes are carried on chromosomes, how sex is determined, and how errors such as nondisjunction lead to abnormal chromosome numbers (aneuploidy).

The chromosome theory and sex determination

Linkage

This relationship between distance and recombination frequency is the basis of genetic mapping: by measuring how often two linked genes are separated, biologists estimate how far apart they lie on a chromosome. Genes on different chromosomes, by contrast, assort independently and follow Mendel's second law, which is why linkage was the first major exception to independent assortment to be discovered.

Nondisjunction and aneuploidy

Try this

Q1. State where nondisjunction can occur during meiosis. [2 points]

  • Cue. Anaphase I (homologous chromosomes fail to separate) or anaphase II (sister chromatids fail to separate).

Q2. Explain why linked genes do not show independent assortment. [2 points]

  • Cue. They are on the same chromosome, so they travel together through meiosis unless crossing over separates them.

Exam-style practice questions

Practice questions written in the style of College Board exam questions on this dot point, with worked answer explainers. The year tag is the paper they imitate, not the source.

AP 2019 (style)4 marksSection II (long FRQ excerpt). (a) Describe what nondisjunction is and at which stage of meiosis it can occur. (b) Explain how nondisjunction in meiosis I can produce a gamete with an extra chromosome, and predict the chromosome number of a resulting zygote if a normal gamete fertilizes it (assume the species is 2n = 46).
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A 4-point describe-explain-predict FRQ on nondisjunction.

(a) Describe (1 point): nondisjunction is the failure of homologous chromosomes or sister chromatids to separate during meiosis; (1 point) it can occur in anaphase I (homologues fail to separate) or anaphase II (sister chromatids fail to separate).
(b) Explain and predict (2 points): (1 point) if a pair fails to separate in meiosis I, one gamete gets both members of the pair (n + 1 = 24) and another gets neither (n - 1 = 22); (1 point) if the n+1=24n + 1 = 24 gamete is fertilized by a normal n=23n = 23 gamete, the zygote has 24+23=4724 + 23 = 47 chromosomes (trisomy).

Markers reward defining nondisjunction, naming the stage, and the correct zygote chromosome count of 47.

AP 2017 (style)1 marksSection I (multiple choice). In humans, sex is determined by: (A) the number of X chromosomes only. (B) the presence or absence of the Y chromosome. (C) the total chromosome number. (D) environmental temperature during development.
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The correct answer is (B).

In humans, the presence of a Y chromosome (carrying the sex-determining gene) leads to male development; its absence leads to female development. Individuals are XX (female) or XY (male). Temperature-dependent sex determination (D) occurs in some reptiles, but not in humans.

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