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Tue 26 Aug, 2014 04:52 am
Hi guys so I just need a bit of help trying to understand this question that I've been stuck on. Not sure if I'm doing it right. Any insight is very much welcomed.
On further questioning it was learnt that Kirsten’s mother died after a series of strokes at aged 43. Her mother had also had two first trimester pregnancy losses before giving birth to Kirsten. Her father (45) is well and living in Sweden.
Kirsten is worried about her family history. In a 'Gene Review' online she reads that - the factor V Leiden allele (c.G1691A, p.R508Q) is inherited in an autosomal dominant manner, and that it has no known allelic heterogeneity. The risk allele frequency is 5% in Sweden, 2.5% in New Zealanders of European origin, and is rare in Asians and Africans. The penetrance of venous
thrombosis is 6.5% at age 65, a four fold increased relative risk.
Kirsten has a long term Swedish partner and hopes to have children within a few years.
If Kirsten has no, one, or two copies of the risk allele what are the approximate probabilities that a future child will have the risk genotype?
Thanks in advance!!