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Inheritance (A-level only)

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Question 1

Dent disease 1 (DD1) is an inherited kidney disorder characterized by proximal tubule dysfunction. In affected individuals, the cells of the proximal convoluted tubule (PCT) fail to reabsorb low-molecular-weight proteins that have been filtered through the glomerulus. This leads to β2\beta_2β2​-microglobulinuria (abnormally high quantities of β2\beta_2β2​-microglobulin, a small plasma protein, in the urine).

1.

Suggest how DD1 causes β2\beta_2β2​-microglobulinuria.

[2]
2.

DD1 results from a sex-linked recessive mutation in the CLCN5 gene. In a male with DD1, where would this mutation be located? Select (✓) one box.

[ ] The homologous section of a Y chromosome

[ ] The homologous section of an X chromosome

[ ] The non-homologous section of a Y chromosome

[ ] The non-homologous section of an X chromosome

[1]
3.

Scientists investigated the use of transplanted stem cells to treat DD1 in mice. They set up four experimental groups:

  • Group W – 60 wild-type mice (not affected by DD1)
  • Group X – 60 mice with DD1
  • Group Y – 60 mice with DD1 that received stem cells from mice with DD1
  • Group Z – 60 mice with DD1 that received stem cells from wild-type mice

After 16 weeks, the scientists measured the concentration of β2\beta_2β2​-microglobulin in the urine using a scale from 0 (undetectable) to ++++ (highest concentration). The results are shown in Table 1.

Table 1

GroupMaximum concentration of β2\beta_2β2​-microglobulin in urine at 16 weeksPercentage of mice with this concentration (%)
W0100
X++++95
Y++++100
Z++68

Using all the information provided, evaluate the use of stem cells to treat DD1 in humans.

[7]
4.

The scientists carried out further work to investigate how the transplanted stem cells developed after transplantation.

  • They transplanted stem cells from wild-type male mice into adult female mice with DD1.
  • After 16 weeks, they found that β2\beta_2β2​-microglobulinuria in these female mice had significantly decreased.
  • On examining proximal tubule tissue from the female mice, they found that some of these cells contained a Y chromosome.

Suggest how the transplanted stem cells reduced β2\beta_2β2​-microglobulinuria.

[2]

Inheritance (A-level only) Questions

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