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Inheritance (A-level only)

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Question 2

X-linked Glomerulopathy (XG) is an inherited kidney disorder that affects the filtration barrier in the glomeruli of both men and women. In affected individuals, the glomerular basement membrane is abnormal, which leads to albuminuria (abnormally high quantities of albumin, a plasma protein, in the urine).

1.

Suggest how XG causes albuminuria.

[2]
2.

XG results from a sex-linked recessive mutation. In a male with XG, 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 XG in rats. They set up four experimental groups:

  • Group P – 50 wild-type rats (not affected by XG)
  • Group Q – 50 rats with XG
  • Group R – 50 rats with XG that received stem cells from rats with XG
  • Group S – 50 rats with XG that received stem cells from wild-type rats

After 24 weeks, the scientists measured the quantity of albumin in the urine using a scale from 0 (none) to ++++ (highest concentration). The results are shown in Table 1.

Table 1

GroupMaximum quantity of albumin in urine at 24 weeksPercentage of rats with this quantity of albumin (%)
P0100
Q++++96
R++++100
S+72

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

[4]
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 rats into adult female rats with XG.
  • After 24 weeks, they found that albuminuria in these female rats had significantly decreased.
  • On examining glomerular tissue from the female rats, they found that some of these cells contained a Y chromosome.

Suggest how the transplanted stem cells reduced albuminuria.

[2]

Inheritance (A-level only) Questions

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  3. /Inheritance (A-level only)