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In humans, haemophilia is a sex-linked recessive trait. What are the possible genotypes and phenotypes of offspring from a haemophiliac female and a normal male?

Biology

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3.3

  1. Determine the genotypes of the parents.

    A haemophiliac female has the genotype XhXhX^hX^h.
    A normal male has the genotype XHYX^HY.

  2. Perform a genetic cross.

    Parents: XhXh×XHYX^hX^h \times X^HY
    Gametes from female: XhX^h
    Gametes from male: XHX^H, YY

    Punnett Square:

    GametesXHYXhXHXhXhYXhXHXhXhY\begin{array}{|c|c|c|} \hline \text{Gametes} & X^H & Y \\ \hline X^h & X^HX^h & X^hY \\ \hline X^h & X^HX^h & X^hY \\ \hline \end{array}
  3. Determine the genotypes and phenotypes of the offspring.

    Possible genotypes: XHXhX^HX^h, XhYX^hY
    Possible phenotypes: Normal female (carrier), Haemophiliac male

    Explanation:
    All sons inherit an X chromosome from their mother and a Y chromosome from their father. Since the mother is haemophiliac (XhXhX^hX^h), she can only pass on an XhX^h allele to her sons. The father provides the Y chromosome. Therefore, all sons will have the genotype XhYX^hY, which means they will be haemophiliac.

    2.4.1

  4. Determine the genotypes of the parents.

    A man suffering from haemophilia has the genotype XhYX^hY.
    A woman who is a carrier has the genotype XHXhX^HX^h.

  5. Perform a genetic cross.

    Parents: XhY×XHXhX^hY \times X^HX^h
    Gametes from male: XhX^h, YY
    Gametes from female: XHX^H, XhX^h

    Punnett Square:

    GametesXHXhXhXHXhXhXhYXHYXhY\begin{array}{|c|c|c|} \hline \text{Gametes} & X^H & X^h \\ \hline X^h & X^HX^h & X^hX^h \\ \hline Y & X^HY & X^hY \\ \hline \end{array}
  6. Determine the possible genotypes and phenotypes of the children.

    Possible genotypes: XHXhX^HX^h, XhXhX^hX^h, XHYX^HY, XhYX^hY
    Possible phenotypes:

    • XHXhX^HX^h: Normal female (carrier)
    • XhXhX^hX^h: Haemophiliac female
    • XHYX^HY: Normal male
    • XhYX^hY: Haemophiliac male

    2.4.2
    Haemophilia affects mostly males because it is a sex-linked recessive disorder on the X chromosome. Males have only one X chromosome (XYXY). If a male inherits the recessive allele (XhX^h) on his single X chromosome, he will express the disorder (XhYX^hY) because there is no dominant allele on a second X chromosome to mask it. Females have two X chromosomes (XXXX), so they must inherit two copies of the recessive allele (XhXhX^hX^h) to express the disorder. If a female inherits only one recessive allele (XHXhX^HX^h), she will be a carrier but will not show symptoms due to the presence of a dominant normal allele (XHX^H).

    2.1.1

  7. Determine the genotypes of the parents.

    A normal father has the genotype XHYX^HY.
    A heterozygous mother (carrier) has the genotype XHXhX^HX^h.

  8. Represent the genetic cross.

    Parents: XHY×XHXhX^HY \times X^HX^h
    Gametes from father: XHX^H, YY
    Gametes from mother: XHX^H, XhX^h

    Punnett Square:

    GametesXHXhXHXHXHXHXhYXHYXhY\begin{array}{|c|c|c|} \hline \text{Gametes} & X^H & X^h \\ \hline X^H & X^HX^H & X^HX^h \\ \hline Y & X^HY & X^hY \\ \hline \end{array}
  9. Determine the possible genotypes and phenotypes of the children.

    Possible genotypes: XHXHX^HX^H, XHXhX^HX^h, XHYX^HY, XhYX^hY
    Possible phenotypes:

    • XHXHX^HX^H: Normal female
    • XHXhX^HX^h: Normal female (carrier)
    • XHYX^HY: Normal male
    • XhYX^hY: Haemophiliac male

    2.1.2

  10. Identify the genotype for a haemophiliac male from the Punnett square in 2.1.1.

    The genotype for a haemophiliac male is XhYX^hY.

  11. Calculate the chances.

    From the Punnett square, there is 1 out of 4 possible offspring genotypes that results in a haemophiliac male.
    The chances are 14\frac{1}{4} or 25%.

    The chances of the parents having a child that will be a haemophiliac male are \boxed{\text{25%}}.

    2.1.3
    Males have only one X chromosome (XYXY). Haemophilia is a recessive disorder on the X chromosome. If a male inherits the recessive allele (XhX^h) on his single X chromosome, he will express the disorder (XhYX^hY) because there is no second X chromosome with a dominant normal allele to mask it. A carrier is an individual who possesses a recessive allele but does not express the trait. Therefore, a male cannot be a carrier for haemophilia; he either has the disorder or he does not.

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