【摘要】 目的通过对甲基化CpG结合蛋白2(mehty1-Cp G binding protein 2,MECP2)基因的突变分析,对1例典型的Rett综合征患儿进行基因诊断,并为该家庭提供遗传咨询。方法采用聚合酶链反应和DNA直接测序对先证者及其父母MECP2基因的4个外显子进行序列分析,同时对患儿进行染色体核型分析以排除染色体异常。结果患儿核型正常。针对MECP2基因进行突变分析发现患者存在c.473C>T(T158M)杂合突变,其父母未检测到该突变。结论错义突变T158M是导致该RETT家系患者临床表型的主要原因,通过对RETT家系个体Mecp2基因分析可对REET家系进行有效的遗传咨询。更多还原

【Abstract】 Objective:To provide genetic diagnosis and counseling for a girl with typical Rett sysdrome through analyzing the methyl-Cp G binding protern 2(MECP2)gene. Methods:Four coding exons of MECP2 gene of patient with clinically diagnosed as RETT syndrome and the relatives were sequencing. Lymphocyte culture for karytype analysis was carried out for the patient to exclude chromosomal abnormalities. Results:The karyotype of the girl was normal. A heterozygosis mutation,c.473 C>T(T158 M)in exon4 of the MECP2 gene was detected in patient. The mutation was not detected in parents and normal control. Conclusion:A mutaton in MECP2 gene was detected in a patient featuring typital Rett syndrome. The mutation of T158 M in Mecp2 gene may be the pathologic cause of the paitent with rett syndrome. Genetic counseling by direct sequencing are available for rett syndrome.更多还原