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【目的】研究转录因子FOXP1在汉族孤独症患儿核心家系中的外显子突变,并进行初步的功能预测。【方法】288例孤独症患儿及生物学父母进行FOXP1外显子区域基因测序和拷贝数变异(copy number variation,CNV)检测;使用POLYPHEN及SIFT等软件进行功能预测。【结果】4例患儿的FOXP1基因外显子区域发现4个错义突变,包括P42S,H53Q,L68R和M590V。在CNV检测中为阴性结果。通过功能预测发现,FOXP1的四个罕见突变可能不会对FOXP1编码蛋白产生重要影响。【结论】汉族人群中,FOXP1基因可能不是孤独症的主要致病基因。
【Objective】 To investigate the exon mutation of the transcription factor FOXP1 in the nuclear family of Han children with autism and preliminary functional prediction. 【Methods】 288 cases of autistic children and biological parents were detected FOXP1 exon region gene sequencing and copy number variation (CNV) detection; the use of POLYPHEN and SIFT software such as functional prediction. 【Results】 Four missense mutations were found in the exon of FOXP1 gene in four children, including P42S, H53Q, L68R and M590V. Negative result in CNV test. By functional prediction, four rare mutations in FOXP1 may not have a significant impact on FOXP1-encoded proteins. 【Conclusion】 The FOXP1 gene may not be the major causative gene of autism in Han population.