【目的】 利用多种遗传学技术方法研究孤独症遗传机制。 【方法】 利用多种遗传学技术对孤独症患者进行检测,包括染色体核型分析、多重连接依赖性探针扩增(multiplex ligation dependent probe amplification,MLPA)、SNP(single nucleotide polymorphism)微阵列基因芯片、短串联重复序列(short tanderm repeat,STR)分析。 【结果】 患者是5岁女童,表现有孤独症和智力障碍,染色体核型分析发现9号染色体易位与11号染色体形成新的假双着丝粒染色体。MLPA分析显示9号染色体亚端粒缺失,利用SNP微阵列基因芯片进一步分析发现,存在9p24.3 to 9p23区域缺失,同时还存在9p23 to 9p21.2区域重复,核型描述为45,XX,psu dic(11;9)(p15;p24)。 【结论】 9号染色体短臂关键区域基因拷贝数的重复或缺失与孤独症、智力障碍密切相关。基因芯片技术是研究孤独症遗传机制有力工具。
Abstract
【Objective】 To analyze the genetic mechanism of the patient with autism. 【Methods】 G-banding karyotype analysis,Multiplex ligation dependent probe amplification (MLPA),single nucleotide polymorphism-based genotyping microarray (SNP array) and short tandem repeat (STR) were integrated and used to analyze the genetic verification of the patient with autism. 【Results】 A 5-year-old girl presented with autism was described.Conventional karyotyping revealed a novel translocation t(11;9)(p15;p24).The karyotype was described as 45,XX,psu dic(11;9)(p15;p24).SNP array analysis identified a 8M heterozygosis deletion from 9p24.3 to 9p24.1,5M homozygous deletion from 9p24.1 to 9p23 and 12.5M duplication from 9p23 to 9p21.2.STR analysis showed the paternal origin of the deleted region of chromosome 9. 【Conclusions】 The deletion and duplication of 9p were associated with autism and mental retardation.SNP array can improve the diagnosis of autism.
关键词
孤独症 /
遗传机制 /
微阵列比较基因组杂交 /
拷贝数变异
Key words
autism /
genenic pathogenesis /
array-based compararive genomic hybridization /
copy number variation
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