Rozenberg R, Martins A M, Micheletti C, Mustacchi Z, Pereira L V
Centro de Estudos do Genoma Humano, Depto de Genética, Instituto de Biociências, Universidade de São Paulo, Brazil.
J Inherit Metab Dis. 2004;27(1):109-10. doi: 10.1023/b:boli.0000016680.42018.a1.
Seven Brazilian Tay-Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an unidentified mutation. The IVS7+1g>c mutation has already been described in three Portuguese patients. In this study, all families were unaware of any Portuguese ancestry. Since Brazil was a Portuguese colony, the mutation most probably came from ancient common ancestry. The initial molecular analysis of Tay-Sachs disease patients in Brazil indicated a prevalence of the IVS7+1g>c mutation, possibly as a result of genetic drift.
对7例巴西泰-萨克斯病患者进行了最常见致病突变的筛查。他们均至少携带一份IVS7+1g>c突变。3例患者为纯合子，3例为复合杂合子，有1例仅对母亲进行了检测，结果显示其携带IVS7+1g>c突变。复合杂合子的第二个等位基因表现为：R178H（DN等位基因）、InsTATC1278以及一个未鉴定的突变。IVS7+1g>c突变已在3例葡萄牙患者中被描述。在本研究中，所有家族均未意识到有葡萄牙血统。由于巴西曾是葡萄牙殖民地，该突变很可能源于古老的共同祖先。巴西泰-萨克斯病患者的初步分子分析表明IVS7+1g>c突变具有较高的发生率，这可能是基因漂变的结果。
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