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The provided pedigree chart shows a family with a history of haemophilia. Determine the genotypes of the individuals indicated as unaffected females who must be carriers.

Biology

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Answers

3 parts
9.1

2\text{2}

a

XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}

b

XhY\text{X}^{\text{h}}\text{Y}

Step-by-step solution

12 steps

Part 9.1· 4 steps

  1. Identify affected individuals (shaded) and unaffected individuals (unshaded).

  2. Understand that haemophilia is a sex-linked recessive disorder.

    Males (XY\text{XY}) cannot be carriers; they are either affected (XhY\text{X}^{\text{h}}\text{Y}) or unaffected (XHY\text{X}^{\text{H}}\text{Y}). Females (XX\text{XX}) can be unaffected (XHXH\text{X}^{\text{H}}\text{X}^{\text{H}}), unaffected carriers (XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}), or affected (XhXh\text{X}^{\text{h}}\text{X}^{\text{h}}).

  3. Identify unaffected females who must be carriers because they have an affected son.

    • Individual 1 is an unaffected female but has an affected son (Individual 4, XhY\text{X}^{\text{h}}\text{Y}). Therefore, Individual 1 must be a carrier (XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}).
    • Individual 5 is an unaffected female but has an affected son (Individual 11, XhY\text{X}^{\text{h}}\text{Y}). Therefore, Individual 5 must be a carrier (XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}).
    • Individual 3 is an unaffected female whose mother (Individual 1) is a carrier. She has a 50% chance of being a carrier, but we cannot definitively say she is a carrier without further information (e.g., if she had an affected son).
    • Individual 7 is an unaffected female. Her parents are Individual 3 and Individual 8 (XHY\text{X}^{\text{H}}\text{Y}). Since Individual 3's carrier status is not definite, Individual 7's carrier status is also not definite.
  4. Count the definite carriers.

    • There are 2 definite carriers (Individual 1 and Individual 5).
    • 2\boxed{\text{2}}

Part 9.2

Haemophilia is a sex-linked recessive disorder, meaning the gene is located on the X chromosome. Males have only one X chromosome (XY\text{XY}), so if they inherit the recessive allele (Xh\text{X}^{\text{h}}) on their single X chromosome, they will express the disorder. Females have two X chromosomes (XX\text{XX}), and typically need to inherit two copies of the recessive allele (XhXh\text{X}^{\text{h}}\text{X}^{\text{h}}) to be affected. If a female inherits only one recessive allele (XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}), she is a carrier but usually unaffected, as the dominant allele on her other X chromosome masks the recessive one. This makes it much more common for males to be affected by sex-linked recessive disorders.

Part 9.3

Part a

XHXh\text{X}^{\text{H}}\text{X}^{\text{h}}

Individual 1

  1. Individual 1 is an unaffected female.

  2. She has an affected son (Individual 4, XhY\text{X}^{\text{h}}\text{Y}).

  3. For her son to be affected, he must have inherited the Xh\text{X}^{\text{h}} allele from her.

  4. Since she is unaffected, she must also possess the dominant XH\text{X}^{\text{H}} allele.

    • Genotype: XHXh\boxed{\text{X}^{\text{H}}\text{X}^{\text{h}}}

Part b

XhY\text{X}^{\text{h}}\text{Y}

Individual 4

  1. Individual 4 is an affected male (shaded square).

  2. Males have one X and one Y chromosome.

  3. Since he is affected, his X chromosome must carry the recessive haemophilia allele.

    • Genotype: XhY\boxed{\text{X}^{\text{h}}\text{Y}}

Part 9.4· 1 step

  1. Determine the genotypes of Individual 10 and his wife.

    • Individual 10 is an unaffected male, so his genotype is $\text{X}^{\text{
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