Sex-Linked Inheritance in Humans

X-linked dominant inheritance

X-linked dominant inheritance describes hereditary conditions connected with mutations in genes on the X chromosome.

A single copy of the mutation suffices to cause the disease in both males (who have one X chromosome) and females (who have two X chromosomes).

In some conditions, the lack of a functional gene results in the death of affected males.

The pattern of X-linked dominant inheritance

The pattern of X – linked dominant inheritance is different from X – linked recessive. It is more common in women than males. All daughters of an affected dad, but none of his boys are affected. Any heterozygous affected mother will pass the trait similarly to half of her sons and half of her daughters.

Pattern-of-X-linked

X-linked Dominant Disorders

X-linked dominant conditions are rare relative to other types of Mendelian diseases and show an excess of affected females in a family since females have two X chromosomes. X-linked dominant disorders do not show father-to-son transmission, and affected males (hemizygous for the mutant allele) are typically more significantly impacted than female heterozygotes.

X-Linked Hypophosphatemic Rickets

This X-linked dominant condition is caused by defective phosphate reabsorption in the proximal renal tubules. Affected children may not present before 6-12 months of age and may develop deformities similar to those of vitamin D shortage rickets consisting of enlargement of the wrists and knees, and bow legs. Impaired development is common. Oral problems may take place.

Affected grownups might have symptomatic osteomalacia and bone pain. Regardless of the hypophosphatemia calcitriol levels are often low or normal suggesting that a person part of the condition is abnormal regulation of the 1-hydroxylase. Treatment includes calcitriol or alfacalcidol together with phosphate supplements.

Rett syndrome (RTT)

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6– 18 months of age in females. Symptoms consist of problems in communication and coordination and repetitive movements. Those affected frequently have slower development, trouble strolling, and smaller head size. Complications of Rett syndrome can consist of seizures, scoliosis, and sleeping problems. The seriousness of the condition varies, however.

Rett syndrome is due to a hereditary mutation in the gene, on the X chromosome. It generally takes place as a new mutation, with less than one percent of cases being inherited from a person’s parents.

Y-Linked inheritance

The pattern of Y-linked inheritance is really strange. Maleness is a Y – Y-linked trait. Y – linked trait travels through the Y – chromosome from father to son only. Such traits cannot pass to daughters since they do not inherit Y – chromosome. All sons of an affected father are affected by a Y – linked trait. SRY’s gene on the Y chromosome identifies maleness in men. It is a male sex switch that sets off the developmental process towards maleness after a 6-week pregnancy.

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Sex Limited Trait

A sex-limited trait is limited to only one sex due to anatomical differences. Such characteristic affects a structure or function of the body present in only males or only females. These routes might be controlled by sex-linked or autosomal genes. Genes for milk yield in dairy livestock affect just cows.

Similarly, beard growth in human beings is restricted to males. A woman does not grow a beard herself however she can pass the genes defining heavy beard growth to her sons.

Sex Influenced Trait

Sex influenced trait occurs in both males and women but it is more typical in one sex. It is controlled by an allele that is revealed as dominant in one sex but recessive in the other. This difference in expression is because of hormonal differences between the sexes.

Pattern baldness is a sex-influenced trait. Many more males than women are bald. It is acquired as an autosomal dominant characteristic in males however as an autosomal recessive characteristic in females. A heterozygous male is bald but a heterozygous woman is not. A woman can be bald just when she is homozygous recessive.

Sex-Influenced-Trait

MCQs

  • Question 1: What is X-linked dominant inheritance?
    • A. Inheritance pattern linked to the Y chromosome
    • B. Inheritance pattern linked to the X chromosome
    • C. Inheritance pattern linked to both X and Y chromosomes
    • D. Inheritance pattern linked to autosomes
    • Answer: B. Inheritance pattern linked to the X chromosome
  • Question 2: How is X-linked dominant inheritance different from X-linked recessive inheritance?
    • A. It affects only males
    • B. It is more common in males
    • C. It is more common in females
    • D. It affects both males and females
    • Answer: C. It is more common in females
  • Question 3: In X-linked dominant inheritance, how does the trait pass from an affected father to his children?
    • A. Only to sons
    • B. Only to daughters
    • C. Equally to sons and daughters
    • D. It does not pass to any child
    • Answer: B. Only to daughters
  • Question 4: What is a characteristic of X-linked dominant disorders in terms of transmission?
    • A. Father to son transmission is common
    • B. There is an excess of affected males in a family
    • C. Females are usually unaffected
    • D. Father to son transmission does not occur
    • Answer: D. Father to son transmission does not occur
  • Question 5: Which disorder is mentioned as an example of X-linked dominant conditions?
    • A. Rett syndrome
    • B. X-Linked Hypophosphatemic Rickets
    • C. Y-Linked inheritance disorder
    • D. Sex Limited Trait
    • Answer: B. X-Linked Hypophosphatemic Rickets
  • Question 6: What is the cause of X-Linked Hypophosphatemic Rickets?
    • A. Defective phosphate reabsorption in the distal renal tubules
    • B. Defective phosphate reabsorption in the proximal renal tubules
    • C. Excessive phosphate reabsorption in the distal renal tubules
    • D. Excessive phosphate reabsorption in the proximal renal tubules
    • Answer: B. Defective phosphate reabsorption in the proximal renal tubules
  • Question 7: When does Rett syndrome typically become apparent?
    • A. At birth
    • B. After 6–18 months of age
    • C. During adolescence
    • D. In old age
    • Answer: B. After 6–18 months of age
  • Question 8: How is Rett syndrome usually inherited?
    • A. From both parents
    • B. Only from the mother
    • C. Only from the father
    • D. Usually as a new mutation
    • Answer: D. Usually as a new mutation
  • Question 9: What is the pattern of Y-Linked inheritance?
    • A. Only affects females
    • B. Only affects males
    • C. Equally affects males and females
    • D. Does not affect any gender
    • Answer: B. Only affects males
  • Question 10: What determines maleness in Y-Linked inheritance?
    • A. SRY’s gene on the X chromosome
    • B. SRY’s gene on the Y chromosome
    • C. Presence of two X chromosomes
    • D. Presence of two Y chromosomes
    • Answer: B. SRY’s gene on the Y chromosome
  • Question 11: What defines a sex-limited trait?
    • A. Affects both males and females equally
    • B. Limited to only one sex due to anatomical differences
    • C. Controlled by Y-linked genes
    • D. Controlled by autosomal genes
    • Answer: B. Limited to only one sex due to anatomical differences
  • Question 12: Give an example of a sex-limited trait.
    • A. Eye color
    • B. Beard growth in humans
    • C. Blood type
    • D. Height
    • Answer: B. Beard growth in humans
  • Question 13: What is a sex-influenced trait?
    • A. Limited to one sex due to anatomical differences
    • B. Influenced by both X and Y chromosomes
    • C. Controlled by autosomal genes
    • D. Limited to one sex due to hormonal differences
    • Answer: D. Limited to one sex due to hormonal differences
  • Question 14: Give an example of a sex-influenced trait.
    • A. Color blindness
    • B. Pattern baldness
    • C. Hemophilia
    • D. Cystic fibrosis
    • Answer: B. Pattern baldness
  • Question 15: How is pattern baldness inherited in males and females?
    • A. Autosomal dominant in males, autosomal recessive in females
    • B. Autosomal dominant in females, autosomal recessive in males
    • C. X-linked dominant in both males and females
    • D. Sex-influenced, autosomal dominant in males, autosomal recessive in females
    • Answer: D. Sex-influenced, autosomal dominant in males, autosomal recessive in females
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FAQs on Sex-Linked Inheritance in Humans

  1. What is X-linked dominant inheritance?
    • Answer: X-linked dominant inheritance involves hereditary conditions associated with mutations on the X chromosome, where a single copy of the mutation is sufficient to cause the disease in both males and females.
  2. How does the pattern of X-linked dominant inheritance differ from X-linked recessive?
    • Answer: X-linked dominant inheritance is more common in women than in males. All daughters of an affected father carry the trait, while none of his sons are affected.
  3. Are X-linked dominant disorders common?
    • Answer: X-linked dominant disorders are rare relative to other Mendelian diseases. They exhibit an excess of affected females in a family due to the presence of two X chromosomes in females.
  4. Is father-to-son transmission observed in X-linked dominant disorders?
    • Answer: No, X-linked dominant disorders do not show father-to-son transmission. Affected males are usually more severely impacted than female heterozygotes.
  5. What causes X-Linked Hypophosphatemic Rickets?
    • Answer: X-Linked Hypophosphatemic Rickets is caused by defective phosphate reabsorption in the proximal renal tubules.
  6. When do symptoms of Rett syndrome typically become apparent?
    • Answer: Symptoms of Rett syndrome typically become apparent after 6–18 months of age in females.
  7. What is the genetic basis of Rett syndrome?
    • Answer: Rett syndrome is due to a hereditary mutation in the gene on the X chromosome. It often occurs as a new mutation.
  8. Explain Y-Linked inheritance.
    • Answer: Y-Linked inheritance is peculiar, affecting only males and passing from father to son through the Y chromosome. Such traits do not pass to daughters.
  9. What defines a sex-limited trait?
    • Answer: A sex-limited trait is limited to only one sex due to anatomical differences, affecting a structure or function present in either males or females.
  10. Give an example of a sex-limited trait.
  • Answer: Beard growth in humans is an example of a sex-limited trait, restricted to males.
  1. What is a sex-influenced trait?
  • Answer: A sex-influenced trait occurs in both males and females but is more common in one sex, controlled by an allele expressed as dominant in one sex and recessive in the other due to hormonal differences.
  1. Provide an example of a sex-influenced trait.
  • Answer: Pattern baldness is a sex-influenced trait, more common in males and inherited as an autosomal dominant trait in males and an autosomal recessive trait in females.
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Summary: Sex-Linked Inheritance in Humans

The tutorial on Sex-Linked Inheritance in Humans explores various aspects of genetic inheritance related to the X and Y chromosomes. Key topics covered include:

  1. X-Linked Dominant Inheritance:
    • Conditions linked to mutations on the X chromosome.
    • Single copy of the mutation causes disease in both males and females.
  2. Pattern of X-Linked Dominant Inheritance:
    • Different from X-linked recessive.
    • More common in women; daughters of affected fathers carry the trait.
  3. X-Linked Dominant Disorders:
    • Rare relative to other Mendelian diseases.
    • Excess of affected females due to two X chromosomes.
    • No father-to-son transmission; affected males more severely impacted.
  4. X-Linked Hypophosphatemic Rickets:
    • Caused by defective phosphate reabsorption.
    • Presents in children with deformities and impaired development.
    • Treatment involves calcitriol and phosphate supplements.
  5. Rett Syndrome (RTT):
    • Genetic disorder in females appearing after 6-18 months.
    • Symptoms include communication issues, coordination problems, and repetitive movements.
    • Severity varies; generally occurs as a new mutation.
  6. Y-Linked Inheritance:
    • Maleness is a Y-linked trait, passing from father to son through the Y chromosome.
    • Does not affect daughters; SRY gene on the Y chromosome triggers maleness.
  7. Sex-Limited Trait:
    • Affects only one sex due to anatomical differences.
    • Examples include genes for milk yield in cows and beard growth in males.
  8. Sex-Influenced Trait:
    • Occurs in both sexes but is more common in one.
    • Influenced by hormonal differences; example includes sex-influenced pattern baldness.

The tutorial provides valuable insights into the complexities of sex-linked inheritance, offering a comprehensive understanding of various genetic conditions and traits. Further reading suggestions are also provided for additional exploration.