Tekcan Akin, Elbistan Mehmet, Tural Sengul, Çetinkaya Mehmet Bilge
a School of Health, Ahi Evran University , Kirsehir , Turkey .
b Section of Medical Genetic, Department of Medical Biology , and.
Gynecol Endocrinol. 2015;31(9):708-14. doi: 10.3109/09513590.2015.1032929. Epub 2015 Aug 18.
This study was performed on miscarriage samples for chromosome analysis to detect copy number variations (CNVs) related to subtelomeric regions, and with these results we aimed to adapt multiplex ligation-dependent probe amplification (MLPA) method for prenatal diagnosis.
The cell cultures and DNA isolations were performed on 60 miscarriage samples. For maternal contamination analysis, DNA isolations and quantitative fluorescent polymerase chain reactions were done using peripheric blood of mothers who had miscarriages. We compared short tandem repeat peak profiles of miscarriage samples and mothers. The subtelomeric regions of the chromosomes were assessed using the MLPA method.
Of 43 miscarriage samples, 19 had normal karyotype (44.2%), 10 had numerical abnormalities (23.3%), and 2 had structural abnormalities (4.7%). Subtelomeric 16q duplication was determined in 2 of the 30 miscarriage samples investigated with MLPA method (6.6%).
There is no statistically significant difference between two groups (p > 0.05). However, the fact that the 6.6% subtelomeric CNV found in miscarriage samples was not found in controls, showed that further studies are required. We recommend that the miscarriage samples of the couples with recurrent miscarriage should be analyzed in terms of subtelomeric CNV after the exclusion of other clinical reasons.
本研究对流产样本进行染色体分析，以检测与亚端粒区域相关的拷贝数变异（CNV），并根据这些结果旨在调整多重连接依赖探针扩增（MLPA）方法用于产前诊断。
对60例流产样本进行细胞培养和DNA提取。为进行母源污染分析，使用流产母亲的外周血进行DNA提取和定量荧光聚合酶链反应。我们比较了流产样本和母亲的短串联重复序列峰图。使用MLPA方法评估染色体的亚端粒区域。
43例流产样本中，19例核型正常（44.2%），10例有数目异常（23.3%），2例有结构异常（4.7%）。在用MLPA方法检测的30例流产样本中，有2例检测到亚端粒16q重复（6.6%）。
两组之间无统计学显著差异（p>0.05）。然而，流产样本中发现的6.6%亚端粒CNV在对照组中未发现这一事实表明需要进一步研究。我们建议在排除其他临床原因后，对复发性流产夫妇的流产样本进行亚端粒CNV分析。
