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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。
A total of 21939 people were surveyed in three types of rural areas in the Huanggang area of Hubei Province, namely plain, hilly and mountainous areas. Eight patients with progressive proximal spinal muscular atrophy were found, with a prevalence of 36.49 / 100 000, belonging to PSMA-II type and autosomal recessive inheritance. The frequency of the causative gene was estimated to be 1.9%. Hereditary 6 cases of motor nerve and sensory neuropathy, the prevalence was 27.34 / 100,000, belonging to HMSN-Ⅱ type, except for 1 case of unknown genetic mode, the other is autosomal dominant. Both types of hereditary muscular dystrophy cluster in the hilly areas, indicating that genetic predisposition to genetic atrophy in this area is necessary.