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Molecular genetics · Mendelian genetics

Sex-linked inheritance

Picture a high school soccer game: a boy on the team cannot tell the red jerseys from the green ones, yet his sister and mother see them fine. Why? (We come back to this at the end of the Sex-linked inheritance page: he is hemizygous, with a single X.) Genes located on the sex chromosomes are not inherited in the same way as autosomal genes, because males and females carry different sets of X and Y chromosomes. This asymmetry explains why red-green color blindness and hemophilia mainly affect males, why some characteristics appear in only one sex, and why genetics problems have to be read using a specific notation: $X^AX^a$.

Sex chromosomes and hemizygosity

Comparison of human sex chromosomes: the woman has two X chromosomes, each with the locus of a gene (two alleles); the man has one X with the locus and a much shorter Y without it (a single allele, hemizygosity). female (XX): two alleles male (XY): one allele X X X Y locus of an X-linked gene
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In the sex-determination system characteristic of mammals, explain why it is the father who determines the sex of the offspring and what the probability of having a son…

In the sex-determination system characteristic of mammals, explain why it is the father who determines the sex of the offspring and what the probability of having a son or a daughter is in each pregnancy. Reason your answer from the gametes produced by each parent.

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Explain why genes on the X chromosome are inherited differently in men and in women, and clarify what it means that, for those genes, a man is hemizygous.

Explain why genes on the X chromosome are inherited differently in men and in women, and clarify what it means that, for those genes, a man is hemizygous.

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X-linked inheritance

Diagram of X-linked recessive inheritance: a carrier mother XᴰXᵈ can pass the allele to a carrier daughter XᴰXᵈ or to a color-blind son XᵈY. carrier mother XDXd passes on… …to a carrier daughter XDXd …or to a color-blind son XdY
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Color blindness is due to a recessive allele linked to the X chromosome ($X^d$), while normal vision depends on the dominant allele ($X^D$). A carrier woman has children…

Color blindness is due to a recessive allele linked to the X chromosome ($X^d$), while normal vision depends on the dominant allele ($X^D$). A carrier woman has children with a man with normal vision. State the possible genotypes and phenotypes of the sons and of the daughters, with the probability of each one.

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A woman is color-blind ($X^d X^d$). State, with reasoning, what her father's genotype and phenotype must necessarily be for this trait, and what can be stated about her…

A woman is color-blind ($X^d X^d$). State, with reasoning, what her father's genotype and phenotype must necessarily be for this trait, and what can be stated about her mother's genotype.

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A couple in which both have normal vision have a color-blind son. a) Deduce the genotypes of the parents and of the son. b) Calculate the probability that the couple's…

A couple in which both have normal vision have a color-blind son. a) Deduce the genotypes of the parents and of the son. b) Calculate the probability that the couple's next daughter will be color-blind. c) Calculate the probability that that daughter will be a carrier of the allele.

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Hemophilia is a recessive disease linked to the X chromosome ($X^h$). Calculate the probability that a carrier woman and a healthy man will have a hemophilic son,…

Hemophilia is a recessive disease linked to the X chromosome ($X^h$). Calculate the probability that a carrier woman and a healthy man will have a hemophilic son, stating the genotypes of the parents.

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Hemophilic women are extremely rare. State what genotype a woman must have to suffer from hemophilia and what genotypes her parents would have to have for a hemophilic…

Hemophilic women are extremely rare. State what genotype a woman must have to suffer from hemophilia and what genotypes her parents would have to have for a hemophilic girl to be born, reasoning why that combination is so infrequent.

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A healthy woman whose father had hemophilia has children with a healthy man. a) State the woman's genotype, justifying why she is an obligate carrier. b) Calculate the…

A healthy woman whose father had hemophilia has children with a healthy man. a) State the woman's genotype, justifying why she is an obligate carrier. b) Calculate the probabilities of hemophilia among her sons and among her daughters. c) Reason whether the woman's mother also needed to be a carrier to explain her genotype.

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A woman carrier of hemophilia has children with a hemophilic man. a) State the genotypic ratios expected in the offspring. b) Calculate the probability of having a…

A woman carrier of hemophilia has children with a hemophilic man. a) State the genotypic ratios expected in the offspring. b) Calculate the probability of having a hemophilic daughter. c) Explain why this cross can indeed produce hemophilic daughters, unlike the cross between a carrier and a healthy man.

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In cats, the gene for orange or black coat color is on the X chromosome: the allele $X^O$ produces orange and $X^B$ black; $X^B X^O$ females have a tortoiseshell coat,…

In cats, the gene for orange or black coat color is on the X chromosome: the allele $X^O$ produces orange and $X^B$ black; $X^B X^O$ females have a tortoiseshell coat, with patches of both colors. a) Explain why male cats are almost never tortoiseshell. b) State the expected phenotypes, separated by sex, of the cross between a tortoiseshell female and a black male.

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Combining an X-linked trait with an autosomal trait

When two genes are on different chromosomes, use the product rule: work out each trait separately, then multiply.

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In a genetic counseling unit, a couple wishing to have offspring is being studied. Two traits segregate in the family: color blindness (X-linked recessive) and…

In a genetic counseling unit, a couple wishing to have offspring is being studied. Two traits segregate in the family: color blindness (X-linked recessive) and polydactyly (autosomal dominant anomaly with complete penetrance):

  • The man has six digits (polydactyly) and normal color vision. His mother had five digits on her hands and feet, but his maternal grandfather was color-blind.

  • The woman has five digits and normal vision; her father was color-blind and had five digits, and her mother had no family history of color blindness or polydactyly.

  1. a) Deduce with justification the genotypes of the two members of the couple and of their respective parents.
  2. b) If the couple is expecting fraternal twins (a boy and a girl conceived from different eggs and sperm), calculate the probability that:

1) The boy exhibits both polydactyly and color blindness at the same time.

2) The girl is phenotypically unaffected for both traits and, in addition, is free of the color blindness allele (not a carrier).

  1. c) Some time later, a male child with Klinefelter syndrome ($47,XXY$) who suffers from color blindness and polydactyly is born to the family. Justify unambiguously in which of the two parents and in which exact stage of meiosis (meiosis I or meiosis II) the chromosome non-disjunction failure that originated this karyotype occurred.
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In a medical genetics consultation, the case of a family with a history of hemophilia A (an X-linked recessive disease) is studied: A hemophilic male (I-1) and a…

In a medical genetics consultation, the case of a family with a history of hemophilia A (an X-linked recessive disease) is studied:

  • A hemophilic male (I-1) and a healthy, non-carrier female (I-2) have a healthy daughter (II-2).

  • II-2 marries a healthy male (II-1) and they have three healthy offspring: two males and one female (III-3).

  • Female III-3 plans to have children with a healthy man (III-4). A genetics student claims: "Since the mother (II-2) had two healthy sons and never had symptoms, it is not certain that she is a carrier; and since III-3 is a healthy female, there is no risk of her male offspring suffering from the disease."

  1. a) Refute the student's claim in a justified manner by demonstrating why II-2 is necessarily an obligate carrier.
  2. b) Calculate the probability that female III-3 is a carrier of the mutated allele and the probability that her first son is born with hemophilia.
  3. c) If the first son of III-3 and III-4 turns out to be completely healthy, reason whether this fact modifies the probability that a second son will be hemophilic.
  4. d) Design a different hypothetical family situation in which a female is an obligate carrier of hemophilia A without her father having been hemophilic, justifying your answer.
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The X-linked inheritance pattern and reciprocal crosses

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A color-blind man has children with a woman with normal vision who is not a carrier. Reason whether they can have color-blind sons, color-blind daughters, or carrier…

A color-blind man has children with a woman with normal vision who is not a carrier. Reason whether they can have color-blind sons, color-blind daughters, or carrier daughters, stating the genotypes of all the offspring.

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The square in the diagram represents the cross between a carrier woman for color blindness and a man with normal vision. a) Complete the four cells with the genotypes of…

The square in the diagram represents the cross between a carrier woman for color blindness and a man with normal vision. a) Complete the four cells with the genotypes of the offspring. b) State the probability that a daughter will be a carrier. c) State the probability that a son will be color-blind. d) Explain why no son inherits the X chromosome from his father.

XᴰXᵈ × XᴰY ♂ ♀ Xᴰ Y Xᴰ Xᵈ ? ? ? ?
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In Drosophila, red eye color ($X^{w+}$) is dominant over white ($X^w$), the trait being linked to the X chromosome. A heterozygous female is crossed with a white-eyed…

In Drosophila, red eye color ($X^{w+}$) is dominant over white ($X^w$), the trait being linked to the X chromosome. A heterozygous female is crossed with a white-eyed male. a) State the genotypes of both parents. b) Determine the phenotypic ratios expected in the total offspring and separated by sex. c) Compare these ratios with those of an autosomal test cross and point out the essential difference.

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Sex-influenced and sex-limited inheritance

In a breed of sheep, a cross between a horned ram and a hornless (polled) ewe produces horned males and hornless females, even though they share the same heterozygous genotype. How can the same genotype produce opposite phenotypes depending on the sex of the animal?

A pair of autosomal chromosomes with alleles B and b, present in both sexes, gives a bald Bb male (with hair only at the sides and a bare crown) and a non-bald Bb female (with a full head of hair and a fringe). autosomal gene: allele B in males and females B b ♂ male Bb bald (dominant) ♀ female Bb not bald (recessive) the same Bb genotype gives a different phenotype depending on sex
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Common baldness is a sex-influenced trait: the allele B behaves as dominant in men but as recessive in women, so that only BB women are bald, while BB and Bb men are…

Common baldness is a sex-influenced trait: the allele B behaves as dominant in men but as recessive in women, so that only BB women are bald, while BB and Bb men are bald. A heterozygous bald man has children with a heterozygous non-bald woman. a) State the genotypes of both. b) Calculate the probability that a son will be bald. c) Calculate the probability that a daughter will be bald. d) Explain the difference between sex-influenced inheritance and sex-linked inheritance.

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In a sheep breed, the inheritance of the presence or absence of horns is studied. A farmer crosses a horned ram with a hornless ewe, both coming from pure-breeding…

In a sheep breed, the inheritance of the presence or absence of horns is studied. A farmer crosses a horned ram with a hornless ewe, both coming from pure-breeding lines. In the F1 offspring, 100% of the males have horns and 100% of the females lack them.

An agricultural technician states: "The gene responsible is located in the differential segment of the X chromosome and the horned allele is recessive, so the ram transmitted its Y chromosome and the ewe its X chromosome."

  1. a) Refute the technician's proposal by formally demonstrating, with the corresponding parental genotypes, why the X-linked model is incompatible with the F1 results.
  2. b) Formulate an alternative hypothesis based on an autosomal sex-influenced gene (H allele horned, h allele hornless), defining the dominance relationship in each sex and verifying that it accounts for both the parents and the F1.
  3. c) If individuals of this F1 are intercrossed, predict the exact genotypic and phenotypic proportions expected in the F2 broken down by sex (among males and among females).
  4. d) Justify why a sex-influenced trait differs biologically from a sex-limited trait (such as milk production), reasoning whether a hornless ewe can transmit the presence of horns to her male offspring.
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Y-linked inheritance and other sex-determination systems

In certain human families, a hearing abnormality is passed without exception from grandfather to father and from him to all of his sons, and it never appears in the women of the line. On which chromosome must an allele be located to pass exclusively from male to male?

Y-linked inheritance: the Y chromosome passes from the father to his son by means of an arrow, and no daughter receives it. father son Y chromosome Y chromosome no daughter receives it son: only he inherits the characteristic
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What is holandric inheritance? Explain why a trait linked to the Y chromosome is always transmitted from father to son and why no woman can show it or transmit it.

What is holandric inheritance? Explain why a trait linked to the Y chromosome is always transmitted from father to son and why no woman can show it or transmit it.

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Auricular hypertrichosis (abundant hair growth on the ears) has been described as a trait linked to the Y chromosome. A man who shows it has four sons and three…

Auricular hypertrichosis (abundant hair growth on the ears) has been described as a trait linked to the Y chromosome. A man who shows it has four sons and three daughters. a) State what proportion of his sons would be expected to show the trait. b) State what proportion of his daughters will show it. c) Justify both answers from the transmission of the sex chromosomes.

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In industrial poultry farming, the ZW chromosomal sex-determination system is used for the immediate identification of the sex of chicks right after hatching…

In industrial poultry farming, the ZW chromosomal sex-determination system is used for the immediate identification of the sex of chicks right after hatching (autosexing). Barred plumage is determined by a dominant allele (Z^B) and non-barred by its recessive allele (Z^b).

  1. a) Design the exact parental cross that must be carried out on a farm so that 100% of male chicks hatch with barred plumage and 100% of females hatch non-barred, indicating the genotypes and phenotypes of both parents. Justify why the reciprocal cross would not work for universal phenotypic autosexing at hatching.
  2. b) If the females obtained from this cross are subsequently crossed with a rooster heterozygous for this trait, determine the expected genotypic and phenotypic proportions in the offspring broken down by sex.
  3. c) In a poultry line, an early recessive lethal mutation linked to the Z chromosome (Z^l) is detected that prevents egg hatching. If a healthy carrier rooster (Z^B Z^l) is crossed with normal non-barred hens (Z^b W), predict and justify the sex ratio (male : female ratio) observed among the live chicks that manage to hatch.
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Dosage compensation, X-linkage and nondisjunction

Almost all tricolor (tortoiseshell) cats are females with well-defined alternating black and orange patches, whereas males have a uniform coat. Why does a heterozygous female show an irregular mosaic of patches instead of a uniform intermediate color?

Random inactivation of one X chromosome in an XᴮXᴼ female. In the early embryo each cell inactivates one of its two X chromosomes. By mitosis, the daughter cells keep the same inactive X, which forms the Barr body. So the adult tissue is a mosaic of patches of cells with either the black allele or the orange allele active. Tissue of an XᴮXᴼ female: cellular mosaic early embryo adult tissue (skin) inactivation at random of one X mitosis Barr body Xᴮ active → black fur Xᴼ active → orange fur Barr body: inactive X, next to the nuclear envelope each patch is a clone: the daughter cells keep the same inactive X

Back to the start: a female cat is a mosaic because each cell randomly inactivates one of its two X chromosomes (the Barr body), so patches of black and orange fur appear, while a male has a single X and a uniform coat.

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A woman with Turner syndrome (karyotype X0, a single X chromosome) is color-blind, while both her parents have normal vision. a) State the genotype of the mother and of…

A woman with Turner syndrome (karyotype X0, a single X chromosome) is color-blind, while both her parents have normal vision. a) State the genotype of the mother and of the father for the color blindness trait. b) Reason from which of the two parents the woman inherited her single X chromosome. c) Explain what meiotic error (non-disjunction), and in which parent, could have given rise to this karyotype.

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Summary

See all the exercises in this section