| 染色体拷贝数变异测序联合STR分型在流产物遗传学分析中的应用 |
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| 引用本文： | 庞宇,王朝红,唐俊湘,王森林,朱健生.染色体拷贝数变异测序联合STR分型在流产物遗传学分析中的应用[J].蚌埠医学院学报,2022,47(12):1719-1722. |
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| 作者姓名： | 庞宇 王朝红 唐俊湘 王森林 朱健生 |
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| 作者单位： | 1.安徽医科大学附属合肥医院 (合肥市第二人民医院) 检验科, 安徽 合肥 2300112.安徽医科大学附属妇幼保健院 医学遗传中心, 安徽 合肥 230001 |
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| 基金项目： | 安徽省重点研究与开发计划项目202004j07020004 |
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| 摘 要： | 目的对150例流产物进行遗传学检测，并对结果进行分析，为探究自然流产的遗传学病因积累临床资料。方法选择2020年2-7月在安徽省妇幼保健院妇产科就诊的150例自然流产病人，运用拷贝数变异测序（copy number variation sequencing，CNV-Seq）联合短串联重复序列（Short tandem repeats，STR）分型对流产物进行遗传学检测。结果150例流产物均成功检测，染色体正常71例（47.33%），染色体异常79例（52.67%），其中染色体数目异常56例，占染色体异常总数的70.89%，染色体微重复/微缺失4例（2.67%），嵌合体14例（9.33%），染色体数目合并结构异常3例（2.00%），单亲二倍体2例（1.33%）。导致自然流产最主要的染色体异常为染色体数目异常（37.33%），包括染色体非整倍体（32.67%）、三倍体（4.67%）；其次为嵌合体（9.33%）。与自然流产密切相关的染色体异常依次为:45，X、16-三体；69，XNN、21-三体；18-三体；16-三体嵌合体。结论CNV-Seq联合STR技术适用于流产物染色体异常的检测，可覆盖更多范围的染色体异常，能实现更加准确、全面的诊断，对明确自然流产的遗传因素，指导孕妇再次备孕，实现优生优育具有重要的意义。
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| 关 键 词： | 自然流产 拷贝数变异测序 短串联重复序列 染色体数目异常 染色体结构异常 |
| 收稿时间： | 2021-07-26 |
Application of chromosome copy number variation sequencing combined with STR typing technique in the genetic analysis of abortion |
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| Affiliation: | 1.Clinical Laboratory, Hefei Hospital, Anhui Medical University, Hefei Second People's Hospital, Hefei Anhui 2300112.Medical Heredity Research Center, Affiliated Maternal and Child Health Hospital of Anhui Medical University, Hefei Anhui 230001, China |
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| Abstract: | ObjectiveTo explore the genetic causes of spontaneous abortion and accumulate clinical data by genetic detection and analysis of the 150 cases of abortion.MethodsA total of 150 patients with spontaneous abortion who underwent in the Obstetrics and Gynecology Department of Anhui Province Maternity and Child Health Hospital from February 2020 to July 2020 were selected.Copy number variation sequencing(CNV-Seq) combined with short tandem repeats(STR) typing technique were used to detect the genetic characteristics of abortion.ResultsAll 150 cases of abortion were detected successfully, 71 cases were normal(47.33%), 79 cases were chromosomal abnormalities(52.67%).Among them, 56 cases(70.89%) had chromosome number abnormality, 4 cases had chromosome microduplication/microdeletion(2.67%), 14 cases had mosaicisms(9.33%), 3 cases had chromosome number and structure abnormality(2.00%), and 2 cases had uniparental diploid(1.33%).The main chromosomal abnormality which leading to spontaneous abortion was chromosomal number abnormality(37.33%), including chromosome aneuploidy(32.67%) and triploid(4.67%), followed by mosaicisms(9.33%).The chromosomal abnormalities which closely related to spontaneous abortion were (45, X), trisomy 16, (69, XNN), trisomy 21, trisomy18 and mosaic trisomy16.ConclusionsCNV-Seq combined with STR typing technique is suitable for the detection of chromosomal abnormalities in abortion.It can cover more chromosomal abnormalities and also can realize more accurate and comprehensive diagnosis in abortion.It has great significance to diagnose the genetic factors for spontaneous abortion, guide pregnant women to prepare for pregnancy again and realize the eugenics. |
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