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加拿大草原地区亨廷顿病的调查。一、患病率。

Investigations on Huntington's disease in the Canadian Prairies. I. Prevalence.

作者信息

Shokeir M H

出版信息

Clin Genet. 1975 Apr;7(4):345-8. doi: 10.1111/j.1399-0004.1975.tb00340.x.

DOI:10.1111/j.1399-0004.1975.tb00340.x
PMID:123837
Abstract

One hundred and sixty-two confirmed cases of Huntington's disease have been ascertained in the provinces of Saskatchewan and Manitoba in the Canadian Prairies. They were encountered in 97 sibships which were derived from 58 kindreds. The prevalence of the disorder was estimated to be 8.4 per 100,000 individuals. Taking into account the mean age of onset of the disorder, 23.3 per 100,000 individuals are expected to be heterozygous for the Huntington's disease allele, the frequency of which is thus computed to be 0.0001168.

摘要

在加拿大大草原地区的萨斯喀彻温省和曼尼托巴省,已确诊162例亨廷顿舞蹈症病例。这些病例分布在97个同胞组中,这些同胞组来自58个家族。据估计,该疾病的患病率为每10万人中有8.4例。考虑到该疾病的平均发病年龄,预计每10万人中有23.3人为亨廷顿舞蹈症等位基因的杂合子,由此计算出该等位基因的频率为0.0001168。

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