急性韦尼克-霍夫曼病（1型脊髓性肌萎缩症）的基因频率。英格兰东北部的一项总人口调查。
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.
作者信息
Pearn J H
出版信息
J Med Genet. 1973 Sep;10(3):260-5. doi: 10.1136/jmg.10.3.260.
Abstract
A retrospective total population study of acute Werdnig-Hoffmann disease (spinal muscular atrophy type 1) has been undertaken in three counties of North-East England (Northumberland, Newcastle upon Tyne, and Durham). The gene frequency for the disease is q=0·00625 with a carrier frequency for this part of the English population of 1 in 80. The data suggest that there may be differences in gene frequency within the region sampled, a finding in keeping with other investigations of variations in gene frequency in this region. The suggestion that this disease is the second most common fatal autosomal recessive disease of childhood in Britain is confirmed. An hypothesis of heterozygote advantage due to relative resistance to epidemic poliomyelitis is presented to account for the high gene frequency observed.
摘要
在英格兰东北部的三个郡（诺森伯兰、泰恩河畔纽卡斯尔和达勒姆）开展了一项关于急性韦尔尼克-霍夫曼病（脊髓性肌萎缩1型）的回顾性全人群研究。该病的基因频率为q = 0·00625，在该部分英国人群中携带者频率为1/80。数据表明，在所抽样的区域内基因频率可能存在差异，这一发现与该区域基因频率变异的其他研究结果一致。这一疾病是英国儿童期第二常见的致命常染色体隐性疾病这一说法得到了证实。本文提出了一个关于杂合子优势的假说，即由于对流行性脊髓灰质炎具有相对抗性，以此来解释所观察到的高基因频率。
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The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.急性韦尼克-霍夫曼病（1型脊髓性肌萎缩症）的基因频率。英格兰东北部的一项总人口调查。
J Med Genet. 1973 Sep;10(3):260-5. doi: 10.1136/jmg.10.3.260.
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