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目的:了解脑部发育异常(胼胝体发育不良)胎儿的基因组拷贝数变化,探讨微阵列基因组杂交在产前诊断中应用的可行性和优越性。方法:对常规染色体核型分析未见异常的胎儿及其父母采用微阵列基因组杂交(array-based compar-ative genomic hybridization,array-CGH)技术进行基因组拷贝数变化的检测分析(copy number variations,CNVs)。结果:经过array-CGH分析,在胎儿染色体7q36.3端粒位置发现存在1.4Mb的片段缺失,位于chr7:155257241-156684811,经与数据库对照分析证实为致病性缺失片段,而其父母未发现同样的基因片段异常,明确了胎儿异常的遗传学原因。结论:array-CGH是一种高通量、高分辨率及高准确性的遗传学分析技术,能够发现染色体片段上的亚微结构异常,是临床遗传学不可或缺的诊断技术。
Objective: To understand the genomic copy number changes in fetus with abnormal brain development (corpus callosum dysplasia) and to explore the feasibility and superiority of microarray genomic hybridization in prenatal diagnosis. Methods: Genomic copy number variations (CNVs) were detected by array-based compar-ative genomic hybridization (array-CGH) in fetuses with no abnormalities in conventional karyotype analysis. ). Results: After array-CGH analysis, 1.4Mb fragment deletion was found at the telomere site of chromosome 7q36.3 in chr7: 155257241-156684811, which was confirmed to be a pathogenic deletion fragment by comparison with the database, but not found by its parents The same gene fragment abnormalities, a clear genetic abnormal fetal reasons. Conclusion: Array-CGH is a high-throughput, high-resolution and high-accuracy genetic analysis technique that can detect sub-microstructural abnormalities on chromosome segments and is an indispensable diagnostic technique in clinical genetics.