Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Uzielli M L
Genetics and Molecular Medicine Unit, Department of Paediatrics, University of Florence, Via Luca Giordano, 13, 50132, Florence, Italy.
Brain Dev. 2001 Dec;23 Suppl 1:S242-5. doi: 10.1016/s0387-7604(01)00342-4.
We report a direct DNA sequencing analysis of the MECP2 gene undertaken on a further 64 Italian patients with Rett syndrome by using a LICOR 4200 Automated Sequencer. All of the girls entering the study had a consistent clinical diagnosis for this disorder. All coding regions and the flanking intronic splice site sequences were amplified as three non-overlapping fragments by using both forward and reverse primers. The results were then compared to the MECP2 reference sequences published in GenBank. Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls. Genotype/phenotype correlation studies, in particular in groups of patients with the same mutation, did not offer definitive and interesting data.
我们报告了一项对另外64名意大利雷特综合征患者进行的MECP2基因直接DNA测序分析，该分析使用了LICOR 4200自动测序仪。所有参与研究的女孩均有针对该疾病的一致临床诊断。通过使用正向和反向引物，将所有编码区及侧翼内含子剪接位点序列扩增为三个不重叠的片段。然后将结果与GenBank中公布的MECP2参考序列进行比较。在75名无亲缘关系的散发性雷特综合征女孩中，有64名（85.33%）鉴定出MECP2基因突变。基因型/表型相关性研究，尤其是在具有相同突变的患者组中，并未提供明确且有趣的数据。
