Rudenskaia G E, Mamedova R A, Petrin A N, El'chinova G I, Ginter E K
Genetika. 1996 Mar;32(3):425-31.
A population genetic study of spinal amyotrophy (SMA) in six Russian and three Central Asian regions was carried out. In total, 29 patients with autosomal recessive (AR) infantile proximal SMA (SMA I-III) and four patients with rare SMA forms with an unspecified type of inheritance were revealed. In Russian populations, the prevalence of SMA I-III is similar (1.5-2.5/100000), it is one of the most common hereditary neurological diseases. A tendency toward nonuniform territorial SMA prevalence is observed in genetically subdivided populations. The lesser SMA I-III prevalence in Central Asian populations might be due in part to inbreeding depression. A segregation frequency of 0.21 is in accordance with AR inheritance; the proportion of sporadic cases is 3%. Clinical genealogical data support the genetic unity of forms I-III. The origin of pedigrees with SMA in distant relatives is discussed.
对俄罗斯六个地区和中亚三个地区的脊髓性肌萎缩症（SMA）进行了群体遗传学研究。总共发现了29例常染色体隐性（AR）婴儿型近端SMA（SMA I - III）患者以及4例遗传类型未明确的罕见SMA形式患者。在俄罗斯人群中，SMA I - III的患病率相似（1.5 - 2.5/100000），它是最常见的遗传性神经疾病之一。在基因细分的人群中观察到SMA患病率存在地域分布不均的趋势。中亚人群中SMA I - III患病率较低可能部分归因于近亲繁殖衰退。0.21的分离频率符合AR遗传；散发病例的比例为3%。临床系谱数据支持I - III型的遗传一致性。讨论了远亲中SMA家系的起源。
