View Full Version : I am a carrier of Tyrosinemia Type I according to 23andMe

08-22-2012, 12:55 AM
So I suppose it is a blessing that I never married or had children. I would have married at a time when such genetic analysis was not available, and I might have unwittingly chosen a wife who also carried this variant. Had we had children, it is possible they would not have lived to see age 10.

Research indicates this variant is to be found in the FAH gene, variant IVS12+5G>A on chromosome 15. 23andMe concludes: "At least 40 different mutations in the FAH gene cause tyrosinemia type I, but most of them are very rare. 23andMe reports results for four mutations that are either relatively common in the general population or found at higher rates in individuals with French-Canadian, Ashkenazi Jewish, or Finnish ancestry.

"In the general population, around one in 100,000 children is born with tyrosinemia type I and roughly one in 100 carries a mutation associated with it. Amongst French Canadians who trace their ancestry to the Saguenay-Lac-St-Jean (SLSJ) region of Quebec, about one in 2,000 individuals is born with tyrosinemia type I and about one in 20 carries a mutation associated with it."

08-28-2012, 04:47 AM
I thank you because that takes a rare mix of magnanimity and logic to pull that off. Most people where I live are obsessed with breeding.