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Unit 3: Sex Determination, Sex Linkage, and Pedigree Analysis

How chromosomes set an organism's sex, how genes on those chromosomes inherit differently as a result, and how family trees expose both patterns.

8 topics · 29 questions

Each topic is a path, not a menu: work down it in order and every question builds on the one above. Click any of them to watch the answer draw itself.

Chromosomal Sex Determination Systems

  1. How it worksHow does the SRY gene on the Y chromosome trigger male development in mammals?
  2. Going furtherWhat changes about sex determination in birds, where females are ZW and males are ZZ instead?
  3. Common mistakeWhy isn't having two X chromosomes what actively makes a mammalian embryo develop as female?
  4. Worked exampleTrace the sex chromosomes present in a person with X0 Turner syndrome compared to a typical XX or XY karyotype.
Your turn1 of 2
A mammalian embryo with two X chromosomes (XX) develops as female. A student concludes that having two X chromosomes is what actively triggers female development, the same way the SRY gene actively triggers male development. What's wrong with that idea?

X-Linked Inheritance and the Criss-Cross Pattern

  1. How it worksHow does an X-linked recessive allele pass from an affected father to all his daughters but none of his sons?
  2. Worked exampleFind the offspring ratio from crossing a white-eyed male fruit fly with a homozygous red-eyed female.
  3. Common mistakeWhy can't a father pass an X-linked trait directly to his son?
  4. Going furtherWhat happens to the cross ratios when the red-eyed female fly is heterozygous instead of homozygous?
Your turn1 of 2
A heterozygous red-eyed female fruit fly (carrier) is crossed with a red-eyed male. Out of 247 offspring, how many are expected to be white-eyed? (Only sons can show the recessive X-linked trait, and half of sons inherit the recessive X, so 1/4 of all offspring are affected.)

X-Inactivation and Mosaic Phenotypes

  1. How it worksHow does one X chromosome get randomly silenced as a Barr body in every cell of a female embryo?
  2. Going furtherWhat happens to X-inactivation patterns in a female who inherits one X chromosome carrying a harmful mutation?
  3. Common mistakeWhy doesn't X-inactivation mean female mammals end up with less genetic material active than males?
Your turn1 of 2
In a heterozygous calico cat embryo, X-inactivation occurs randomly and independently in each of 76 early progenitor cell lineages, with a 50 percent chance the orange-allele X stays active in any given lineage. How many of the 76 lineages are expected to display the orange coat patch?

Y-Linked Inheritance

  1. How it worksHow does the non-recombining region of the Y chromosome guarantee strict father-to-son transmission?
  2. Worked exampleTrace a Y-linked trait through four generations of a pedigree where every male descendant is affected.
  3. Common mistakeWhy can't a Y-linked trait ever appear in a daughter no matter what her mother carries?
Your turn1 of 2
A Y-linked trait is traced through a pedigree spanning 6 generations, with one son per generation continuing the direct paternal line. How many men in that direct paternal line are affected?

Sex-Limited and Sex-Influenced Traits

  1. How it worksHow does a hormone environment let the same genotype produce different phenotypes in males and females?
  2. Common mistakeWhy isn't a sex-influenced trait like pattern baldness the same thing as an X-linked trait?
  3. Going furtherWhat happens to the dominance relationship of a sex-influenced allele when it moves from a male body to a female body?
  4. Worked exampleFind the expected phenotypes of male and female offspring who each inherit one copy of a sex-influenced pattern-baldness allele.
Your turn1 of 2
A rooster can carry the gene for a hen's egg-laying trait, pass it on to his daughters, and yet never show any hint of it himself, no matter his genotype. How is this different from a sex-influenced trait like pattern baldness, where a genotype's dominance simply flips between males and females?

Pedigree Analysis of Autosomal Traits

  1. How it worksHow does tracing filled and unfilled symbols across a pedigree reveal whether a trait is dominant or recessive?
  2. Worked exampleFind whether a trait is autosomal dominant or autosomal recessive given two unaffected parents have an affected child.
  3. Common mistakeWhy doesn't an autosomal dominant trait have to appear in every single generation of a pedigree?
  4. Worked exampleFind the probability that two unaffected carrier parents have three unaffected children in a row for an autosomal recessive disorder.
  5. Going furtherWhat happens to a pedigree's pattern when an autosomal recessive disorder appears in a family with no history of consanguinity?
Your turn1 of 2
Two unaffected parents, both known carriers for an autosomal recessive disorder, have 5 children. What is the probability that all 5 children are unaffected?

Pedigree Analysis of X-Linked Traits

  1. How it worksHow does an X-linked recessive pattern in a pedigree differ from an autosomal recessive one?
  2. Worked exampleFind the genotypes of every individual in a three-generation pedigree segregating X-linked color blindness.
  3. Going furtherWhat pattern would the same pedigree show if the trait were X-linked dominant instead of recessive?
Your turn1 of 2
A carrier mother for X-linked color blindness (heterozygous) and an unaffected father have 124 children. How many of the 124 children are expected to be color blind?

Calculating Recurrence Risk from a Pedigree

  1. How it worksHow does combining a pedigree's genotype logic with the product rule produce a recurrence risk?
  2. Worked exampleFind the probability that a couple's next child is affected by an autosomal recessive disorder given both parents are known carriers.
  3. Worked exampleFind the probability that a woman with an affected brother but unaffected parents is a carrier for an X-linked recessive disease.
Your turn1 of 2
A couple are both known carriers for 4 different, independently inherited autosomal recessive disorders. What is the probability that their next child is affected by at least one of the 4 disorders?