核型分析结合单核苷酸多态性微阵列技术在一父源性染色体平衡易位家系中的应用

Karyotype analysis combined with SNPS-array technology application for prenatal diagnosis in a paternal balanced translocation

目的用常规羊水穿刺核型分析方法对胎儿诊断疑似核型不平衡易位的患者,应用单核苷酸多态性微阵列(SNP-array)技术进行进一步检测,并探讨SNP-array技术在产前诊断中的应用价值。方法对1位染色体平衡易位患者的妻子羊水穿刺进行核型分析后,再补充进行SNP-array对胎儿的全基因组进行检测,以排除基因亚微突变胎儿的出生。结果此夫妻第三胎染色体核型46,XY,13q+,芯片结果46,XY,der(13)t(9;13)(p21;q33)。此夫妻第四胎核型结果正常,SNP-array基因检测,结果显示该病例染色体8q23.1位置发现286kb片段缺失,内含OMIM基因TRHR。结论对核型分析诊断不明确的易位,行SNP基因芯片分析有助于检出染色体亚微结构的畸变,具有较好的临床应用价值。

Objective：Application of single nucleotide polymorphisms microarray（SNP-array）technology for an amnio conventional karyotype analysis method to the diagnosis of fetal karyotype of suspected unbalanced translocation for further testing,and discuss the value of SNP array technology in prenatal diagnosis. Methods：After amniotic fluid puncture karyotype analysis of the wife of a paternal chromosome balanced translocation,and affymetrix 750 K SNP-array analysis of fetal genetic testing,to avoid the birth of the baby of the submicroscopic chromosome alter. Results：The karyotype of the third fetus of the patient：46,XY,13q＋,chip result is：46,XY,der（13）t（9,13）（p21;q33）. The fouth fetus of the patient′s karyotype was normal,do the SNP-array of genetic test,the result showed that the case of chromosome 8 q23. 1 position found 286 kb fragment miss,containing TRHR gene. Conclusion：Translocation of karyotype analysis diagnosis is unclear,SNP gene chip analysis helps to detect the mutation of the submicroscopic chromosome,which has a good clinical application value.