| 应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变 |
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| 引用本文： | 马芬,吴凤霞,李宁,柳青,杨威,张学,孙淼.应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变[J].中华医学遗传学杂志,2003,26(1):336-339. |
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| 作者姓名： | 马芬 吴凤霞 李宁 柳青 杨威 张学 孙淼 |
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| 作者单位： | 中国医学科学院基础医学研究所北京协和医学院基础医学院医学遗传学系McKusick-张孝骞医学遗传中心医学分子生物学国家重点实验室,北京,100005;辽宁省锦州医学院第一附属医院;中国医科大学; |
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| 基金项目： | 国家自然科学基金面上项目 |
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| 摘 要： | Objectives To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndaetyly syndrome and syndactyly type Ⅳ using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). Methods Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3. 0. The qPCR assay was carried out using the AACT method to validate the duplication. Results With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387kb. Conclusion Screening with the Affymetrix Genome-Wide Human SNP Array 6. 0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.
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| 关 键 词： | Affymetrix SNP芯片 荧光定量PCR DNA重复 |
Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0 |
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| MA Fen,WU Feng-xia,LI Ning,LIU Qing,YANG Wei,ZHANG Xue,SUN Miao.Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0[J].Chinese Journal of Medical Genetics,2003,26(1):336-339. |
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| Authors: | MA Fen WU Feng-xia LI Ning LIU Qing YANG Wei ZHANG Xue SUN Miao |
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| Abstract: | |
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| Keywords: | Affymetrix SNP Arrayquantitative real-time PCRgenomic duplication |
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