Todorova Albena, Tournev Ivailo, Ninova Nadya, Georgieva Veneta, Kremensky Ivo
Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia, Bulgaria.
Community Genet. 2002;5(4):217-21. doi: 10.1159/000066687.
Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive disorder caused by mutations in the gamma-sarcoglycan gene. A 'private' Gypsy C283Y mutation was detected in this gene. Recently, a number of LGMD2C-affected families belonging to a Xoroxane Gypsy group have been detected in eastern Bulgaria and all of these cases were due to the same mutation. We have screened 300 unrelated individuals of reproductive age from this high-risk Xoroxane Gypsy group, settled in Sliven. The genetic test by PCR-SSCP analysis for the C283Y mutation revealed a carrier frequency of 7.7%. The screened sample was ethnically not homogeneous. It was divided in ethnonym groups on the basis of social and economic status, language characteristics and trades. We found that the C283Y was not randomly distributed among the Gypsy subgroups. The disease seemed to be limited to the Xoroxane Gypsy group and geographically localized in eastern Bulgaria.
2C型肢带型肌营养不良症（LGMD2C）是一种常染色体隐性疾病，由γ-肌聚糖基因的突变引起。在该基因中检测到一种“私人”吉普赛人C283Y突变。最近，在保加利亚东部发现了一些属于Xoroxane吉普赛群体的LGMD2C患者家庭，所有这些病例都是由相同的突变引起的。我们对定居在斯利文的这个高危Xoroxane吉普赛群体中300名育龄期非亲属个体进行了筛查。通过PCR-SSCP分析对C283Y突变进行基因检测，结果显示携带者频率为7.7%。所筛查的样本在种族上并非同质化。根据社会经济地位、语言特征和行业将其分为不同的族名群体。我们发现C283Y在吉普赛亚群体中并非随机分布。该疾病似乎仅限于Xoroxane吉普赛群体，并且在地理上局限于保加利亚东部。
