INCIDENCE, PREVALENCE, AND GENE FREQUENCY STUDIES OF CHRONIC CHILDHOOD SPINAL MUSCULAR-ATROPHY
INCIDENCE, PREVALENCE, AND GENE FREQUENCY STUDIES OF CHRONIC CHILDHOOD SPINAL MUSCULAR-ATROPHY
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DOI：
10.1136/jmg.15.6.409
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发表时间：
1978-01-01
影响因子：
4
通讯作者：
PEARN, J
中科院分区：
文献类型：
--
作者：
PEARN, J
在英格兰东北部进行了一项慢性儿童脊髓性肌萎缩症（韦德尼格-霍夫曼病、库格伯-韦兰德病、II 型和 III 型 SMA）的总体人群研究，以确定基因和携带者频率、发病率和患病率。这种疾病的发病率为 24,100 名活产儿中就有 1 人患病。总人口的患病率为 1.20/100,000。描述了一种使用分离分析的数据在已知存在显性新突变（或表型）的情况下估计常染色体隐性基因频率的技术。基因频率范围为 0.00451-0.00659（95% 置信限），工作估计值为 0.0055。有关常染色体隐性基因的携带率为 1/76-1/111（95% 置信限），用于遗传咨询目的的工作估计为 1/90。
A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelber-Welander disease, SMA type II and III) was undertaken in northeast England to establish gene and carrier frequencies, incidence and prevalence. The incidence of this disease was 1 in 24,100 live births. Prevalence was 1.20/100,000 of the general population. A technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies), using data from a segregation analysis, is described. Gene frequency was in the range 0.00451-0.00659 (95% confidence limits), with a working estimate of 0.0055. Carrier rates for the autosomal recessive gene concerned were 1/76-1/111 (95% confidence limits), with a working estimate of 1/90 for genetic counseling purposes.