Wang Li, Bai Nan, Liu Lina, Zhang Qiuyan, Kong Xiangdong
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):443-447. doi: 10.3760/cma.j.issn.1003-9406.2018.03.032.
To explore the genetic basis for a couple with recurrent pregnancy loss by using single nucleotide polymorphism array (SNP array), chromosomal karyotype analysis, and fluorescence in situ hybridization (FISH).
A SNP array was used for analyzing sample derived from the abortic tissue. The couple was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip assay. Based on the results, specific probes were designed to verify the chromosomal aberration by FISH.
The SNP array showed a 16.6 Mb duplication at 11q23.3-q25 and a 11 Mb deletion at 15q26.1-q26.3 in the abortic tissue. Combined with high-resolution G-banding analysis, the karyotype of the wife was verified to be 46,XX,t(11;15)(q24;q26.2). FISH analysis using probes for 11pter/11qter and 15qter confirmed that she has carried a balanced translocation, while the fetus has carried a derivative chromosome 15 derived from the maternal translocation.
SNP array can facilitate detection of balanced translocations which are difficult to be identified by conventional chromosomal karyotyping. The method does not necessitate cell culture and can well suit genetic analysis for couples with recurrent pregnancy loss.
通过使用单核苷酸多态性阵列（SNP阵列）、染色体核型分析和荧光原位杂交（FISH），探究一对反复流产夫妇的遗传基础。
使用SNP阵列分析来自流产组织的样本。对这对夫妇进行G带核型分析和Illumina Human CytoSNP - 12芯片检测。根据结果，设计特异性探针通过FISH验证染色体畸变。
SNP阵列显示流产组织中11q23.3 - q25处有16.6 Mb的重复，15q26.1 - q26.3处有11 Mb的缺失。结合高分辨率G带分析，确认妻子的核型为46,XX,t(11;15)(q24;q26.2)。使用针对11pter/11qter和15qter的探针进行FISH分析证实，她携带平衡易位，而胎儿携带源自母亲易位的衍生15号染色体。
SNP阵列有助于检测常规染色体核型分析难以识别的平衡易位。该方法无需细胞培养，非常适合反复流产夫妇的遗传分析。
