| 摘要: |
| 目的探讨单核苷酸多态性微阵列（SNP-array）技术在颅脑异常胎儿产前诊断中的价值。方法采用G显带核型分析6例胎儿染色体核型，应用SNP-array技术检测6例胎儿全基因组拷贝数变异（CNVs），分析芯片检出的所有CNVs。结果G显带核型分析提示3例胎儿核型异常。SNP-array技术检测出4例胎儿存在基因片段异常，包括Xp22.33p22.2区域、7q35q36.3区域的微缺失和18p11.32q23、Yq11.221q11.23、9p24.3p21.1片段的增加。结论胎儿的颅脑异常可能与基因CNVs相关。SNP-array可精确定位胎儿基因异常，为产前遗传学诊断提供依据。 |
| 关键词: 单核苷酸多态性微阵列 颅脑异常 拷贝数变异 |
| DOI：10.12056/j.issn.1006-2785.2017.39.11.2017-75 |
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| Application of single nucleotide polymorphism array in prenatal diagnosis of craniocerebral abnormality |
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LI Maoyu, ZHENG Sheng, SHEN Xueping, XUE Jianying
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Huzhou Maternity and Child Care Hosptial
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| Abstract: |
| Objective To apply single nucleotide polymorphism array (SNP-array) in prenatal genetic screening for craniocerebral abnormality. Methods Karyotyping was performed by conventional G banding analysis in 6 fetuses, and genome-wide copy number variations (CNVs) were detected by SNP-array in these fetuses. Results The abnormal karyotypes were detected by G banding analysis in 3 fetuses. And abnormal gene fragments were identified by SNP-array in 4 fetuses, including the microdeletion in Xp22.33p22.2, 7q35q36.3 and increased fragments in 18p11.32q23, Yq11.221q11.23, 9p24.3p21.1. Conclusion The craniocerebral abnormality of fetuses is associated with CNVs, which can be detected by SNP-array, indicating that SNP-array may be used for prenatal genetic diagnosis. |
| Key words: SNP-array Craniocerebral abnormality Copy number variations |
