Application of CNV-seq and STR typing technique in genetic analysis of missed abortion
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NETL
NSTL
万方数据
目的 本研究旨在评估将低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)技术与短串联重复序列(short tandem repeat,STR)技术联合应用于稽留流产患者流产组织遗传学病因分析的效果.方法 收集2019年1月至2022年11月期间因"胚胎停育"而终止妊娠的49例稽留流产患者进行CNV-seq技术和STR分型技术的联合检测.结果 研究发现孕妇流产次数≥2次组的胚胎染色体异常率明显高于流产次数<2次组,差异有统计学意义(62.1%vs 30.0%,P<0.05),而高龄孕妇组与非高龄孕妇组的胚胎染色体的异常率差异无统计学意义(70%vs 66.7%,P>0.05).在49例流产物中,CNV-seq结合STR技术共检出34例染色体异常,检出率为69.4%(34/49).其中染色体数目异常的有20例,包括13例非整倍体,5例多倍体(STR技术)和2例嵌合体;染色体结构异常共有14例,其中5例检出为致病性CNV.此外,还检测到了10例临床意义不明(variants of uncertain significance,VUS)的CNV.结论 将低深度CNV-seq技术与STR技术相结合,可以有效地弥补稽留流产的染色体核型分辨率低和培养难度大等缺点,并提高检测稽留流产胚胎异常染色体的能力,明确稽留流产的遗传学病因,为再次妊娠提供更准确的指导.
Objective To explore the combined application of low-depth copy number variation sequencing(CNV-seq)and short tandem repeat(STR)typing in the genetic etiology analysis of missed abortion tissue.Methods The CNV-seq technology and the STR typing technology were used for the testing of 49 patients with missed abortion from January 2019 to November 2022.Results It was found that the chromosomal abnormality rate in the group with≥2 abortions was significantly higher than that in the group with<2 abortions,and the difference was statistically significant(62.1%vs 30.0%,P<0.05).There was no significant difference between older pregnant women and non-older pregnant women(70%vs 66.7%,P>0.05).At the same time,34 chromosomal abnormalities weredetected by CNV-seq among 49 specimens(69.4%,34/49).There were 20 cases of chromosome number abnormalities,including 5 polyploidy(STR),13 aneuploidy and 2 chimerism,and 14 cases of chromosome structure abnormalities,of which 5 cases of pathogenic CNV were detected.In addition,10 cases of CNV of variants of uncertain significance(VUS)were detected.Conclusion CNV-seq combined with STR technology can effectively make up for the shortcomings of low karyotype resolution of abortion products and the difficulty of chorionic villus cell culture,effectively improve the detection rate of abnormal chromosomes,clarify the genetic etiology of missed abortion,and provide better guidance for subsequent pregnancy.
Copy number variation sequencingAbortionGenetic etiologyShort tandem repeat
NETL
NSTL
万方数据
