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多重连接探针扩增及全基因组芯片分析孤独症患者SHANK3及UBE3A等热点基因拷贝数变异初步研究 被引量：2

Correlation of Copy Number Variation in SHANK3,UBE3A and Other Autism Hot Gene Among Autism Children Based on Multiplex Ligation Probe Amplification and Whole-Genome Array Method
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摘要 目的研究SHANK3，UBE3A等热点基因拷贝数变异（CNV）与孤独症的相关性。方法对75名孤独症患儿及112名健康父母和30名正常对照进行研究，利用多重连接探针扩增（MLPA）及全基因组芯片重点对22q13区域（SHANK3基因）、15q11—13（UBE3A，GABRB3基因）、15q13微缺失区域及CHRNA7基因、16p11微缺失区域等区域进行基因组DNA拷贝数变异检测。结果①MLPA分析显示，75名孤独症患儿有6-1；存在22q13区域的SHANK3基因第15外显子杂合缺失（8．0％，6／75），正常纽缺失率为1．4％（2／142），两组同差异有统计学意义（P〈0．05）；②对6名SHANK3杂舍缺失的患儿及6名正常对照进行全基因组芯片分析显示，孤独症患儿CNV变异总数和所涉及的染色体长度都远远高于对照组，在第1，9，15，16，21，22号染色体CNV变化较大。结论高通量全基因拷贝数变异研究有助于孤独症研究，22q13及SHANK3基因可作为孤独症热，点区域重点研究。 Objective To study the correlation of copy number variation in SHANK3,UBE3A and other autism hot gene among children with autism. Methods 75 children with autism and 112 healthy parents and 30 normal controls were investigated by using multiplex ligation-dependent probe amplification （MLPA） and whole-genomic array method. The CNV of 22q13 region （SHANK3 gene）, 15q11-13 （including UBE3A,GABRB3 gene）, 15q13 microdeletion and 16pll microdeletion were mainly focused on in this study. Results （1） MLPA analysis showed that 6 of 75 children with autism had a significantly higher heterozygous ratio of Exon 15 deletion of SHANK3 gene （6/75,8. 0%） than those normal controls （2/ 142,1.4%） （P〈0. 05）;（2） Whole genome array analysis of 6 autism with heterozygous deletion of SHANK3 and 6 normal contorl showed the total number of CNV variation and length of the CNV change in chromosome 1,9,15,16,21,22 in autistic children were far higher than the control samples. Conclusion The high-throughput genomic copy number variation research is helpful to found more information of autism,22q13 region and SHANK3 gene could serve as hot spots in autism research.
作者 刘维强 陈晓林 何文智 张慧敏 钟鑫琪 黎青 孙筱放
机构地区 广州医学院第三附属医院妇产科研究所实验部 广州市生殖与遗传重点实验室
出处 《现代检验医学杂志》 CAS 2011年第3期35-38,共4页 Journal of Modern Laboratory Medicine
关键词 拷贝数变异 孤独症 多重连接探针扩增 芯片 SHANK3基因 copy number variation autism MLPA microarray SHANK3 gene
分类号 R749.8 [医药卫生—神经病学与精神病学] Q754 [生物学—分子生物学]
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参考文献10

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共引文献4

同被引文献17

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现代检验医学杂志
2011年 第3期

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