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目的对1例X性连锁遗传鱼鳞病的胎儿作出产前诊断,探讨Bo Bs技术作用。方法应用G显带分析羊水细胞染色体,用BACs-on-Beads(Bo Bs)技术分析胎儿常见的染色体非整倍体异常及目标区域的微缺失,并应用微阵列单核苷酸多态(single nucleotide polymerphisms array,SNP Array)芯片验证。结果羊水细胞染色体分析未见明显异常,产前Bo Bs结果显示胎儿Xp22.31存在微缺失,SNP Array检测结果显示arr Xp22.31(6,455,151-8,134,649)×0,该片段包含STS、VCX3A、PNPTLA4及HDHD1等4个OMIM基因。结论 Bo Bs技术能快速、准确提示微缺失,通过SNP Array验证,与传统细胞学技术相结合,可显著提升产前诊断的水平。
Objective To make a prenatal diagnosis of fetus with X-linked ichthyosis and to explore the effect of Bo Bs technology. Methods G-banding was used to analyze the amniotic fluid cell chromosomes. The abnormal chromosome aneuploidies and microdeletions of the fetus were analyzed by BACs-on-Beads (Bo Bs) technique. The microarray single nucleotide polymorphisms nucleotide polymerphisms array, SNP Array) chip verification. Results There was no obvious abnormalities in amniotic fluid cell chromosome analysis. The results of prenatal Bo Bs showed microdeletions of Xp22.31 in fetus. The results of SNP Array showed that arr Xp22.31 (6,455,151-8,134,649) × 0, including STS, VCX3A, PNPTLA4 and HDHD1 other 4 OMIM genes. Conclusion Bo Bs technique can prompt microdeletions quickly and accurately, and SNP Array verification can significantly improve the prenatal diagnosis by combining with traditional cytology techniques.