靶向基因高通量测序技术诊断儿童基因组病的可行性研究

发布时间：2018-08-14 12:58

【摘要】：目的·对10例临床怀疑基因组病的患儿进行临床分子诊断,初步探讨靶向基因高通量测序技术检测拷贝数变异(CNVs)的可行性。方法·对患儿进行外周血DNA靶向高通量测序,通过生物信息学分别分析其基因组CNVs,确定致病CNVs位点及大小,同时使用染色体基因芯片技术作为对照方法检测CNVs。结果·靶向测序分析结果表明:在其中1个患儿基因组的17号染色体q25.1—q25.3区域存在9 345 kb的重复(3个拷贝),而另1个患儿基因组中存在15号染色体q11.2—q13.1区域的8 232 kb的杂合缺失,其余8例患儿基因组未见可疑CNVs。染色体基因芯片检测结果与高通量测序结果相比高度一致。结论·借助于分子诊断技术,2名患儿被确诊为基因组病。临床应用靶向基因高通量测序技术检测CNVs完全具有可行性。
[Abstract]:Objective to investigate the feasibility of high throughput sequencing of target genes for detecting copy number variant (CNVs) in 10 children with clinically suspected genomic disease. Methods Peripheral blood DNA targeting high-throughput sequencing was carried out in the children. The genomic CNVs were analyzed by bioinformatics to determine the loci and sizes of the pathogenic CNVs. At the same time, chromosomal gene chip technique was used as a control method to detect CNVs. Results the results of targeted sequencing analysis showed that there were 9 345 kb repeats (3 copies) in the q25.1-q25.3 region of chromosome 17 in one of the children's genomes, while the q11.2-q13.1 region of chromosome 15 was present in the other child's genome. 8 232 kb heterozygosity deletion, No suspicious CNVswere found in the genome of the other 8 children. The results of chromosome gene chip analysis were highly consistent with those of high throughput sequencing. Conclusion two children were diagnosed with genomic disease by molecular diagnostic technique. It is feasible to detect CNVs by high-throughput sequencing of target gene in clinic.
【作者单位】：上海交通大学医学院附属上海儿童医学中心医学遗传科(分子诊断实验室);上海市同仁医院检验科;上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科;美国哈佛大学医学院附属波士顿儿童医院基因诊断实验室;
【基金】：国家自然科学基金(81201353,81371903,81472051) 上海市科委国际合作项目(15410722800) 上海市教育委员会高峰高原学科建设计划(20152529)~~
【分类号】：R725;R440

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