Harding A E, Zilkha K J
J Med Genet. 1981 Aug;18(4):285-7. doi: 10.1136/jmg.18.4.285.
A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.
本文描述了一个家族，其中两代人都出现了弗里德赖希共济失调症。据推测，这是由纯合子与杂合子交配所致。弗里德赖希共济失调症基因的杂合子频率约为1/110，因此患者的单个子女患该病的可能性为1/220。这种风险可能高于在为患有这种疾病的患者提供咨询时通常所认为的风险。
