湖北省黄冈地区遗传性肌萎缩的流行病学调查

Epidemiological Investigation of Hereditary Muscular Atrophies in the Huanggang Prefecture of Hubei Province

在湖北省黄冈地区选取平原、丘陵和山区三种类型的农村地区,共调查21939人。查出进行性近端脊肌萎缩症患者8例,患病率为36.49/10万,属于PSMA-Ⅱ型,为常染色体隐性遗传,估算致病基因频率为1.9%;同时查出遗传性运动神经和感觉神经病6例,患病率为27.34/10万,属于 HMSN-Ⅱ型,除1例遗传方式不明外,其他为常染色体显性遗传。两种遗传性肌萎缩症均群集于丘陵地带,说明在这个地区开展遗传性肌萎缩的优生防治是必要的。

In selected plain,hills and mountain areas in the Huanggang prefecture of Hubei,we have investigated 21939 person.Of them,14 patients with he- reditary muscular atrophies were found out,among them 8 patients suffered proximal spinal muscul atrophies (PSMA)and the others from hereditary mo- tor and sensory neuropathies (HMSN).The former was PSMA-Ⅱ that has an autosomal recessive mode of inheritance and its prevalence was rated 36.64 /100000 in the population investigated.So,the mutant gene was approximate- ly 1.9%.Then,the latter belonged to HMSN-Ⅱ,with autosmal dominant inheritance except for one case.And its incidence vas 27.34/100000.Both were aggregated in hilly areas.