期刊文献+

CNV-seq及染色体核型分析在染色体异常检测中的比较 被引量:12

Comparative study of copy number variation sequencing and karyotype analysis in detection of chromosome abnormality
下载PDF
导出
摘要 目的探讨基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)技术及染色体核型分析在染色体异常检测中的应用价值。方法采用CNV-seq技术和传统的染色体核型分析对42例患者进行染色体分析,对比分析两种检测方法的优势及局限性。结果CNV-seq结果显示,42例标本中染色体拷贝数异常7例,检出率为 16.67%;而染色体核型分析结果显示,存在8例染色体异常(其中染色体结构异常6例,数目异常2例),检出率为 19.04%;此外,还检出4例为染色体多态性变异。结论CNV-seq技术不仅能检测出常规的染色体数目和结构异常(尤其能对来源未知的染色体片段提供更为精准的检测信息),还能检测到100 kb以上的染色体片段的微缺失和微重复;CNV-seq技术不能检测染色体平衡易位和倒位等。传统的染色体核型分析联合CNV-seq检测将会为染色体异常患者提供更为精确的临床诊断。 Objective To explore the clinical application of copy number variation sequencing (CNV-seq) and karyotype analysis in detection of chromosome abnormality. Methods Chromosome of 42 patients was analyzed by karyotype analysis and CNV-seq. The advantages and limitations of the two methods were observed and compared. Results We detected 7 cases of copy number variation by CNV-seq and the case detection rate was 16.67%. We detected cases of chromosomal anomalies by karyotype analysis,which included 6 cases of structural chromosome aberration and 2 cases of chromosome numerical abnormality. The case detection rate of karyotype analysis was 19.04%. Moreover,4 cases of chromosome polymorphism were analyzed. Conclusion CNV-seq can be applied in examining the abnormal chromosome number and structural aberrations,especially in providing clinically significant cytogenetic information that is difficult to be determined by karyotype analysis. It can also analyze chromosome microdeletion and microduplication syndrome with a chromosome resolution of 0.1 Mb. However,CNV-seq fails to identify balanced chromosomal translocation and inversion. Therefore,a combination of karyotype analysis and CNV-seq will provide accurate clinical diagnosis for patients with chromosome abnormality.
作者 李翠 赵明刚 贺芳 王晓岩 李旭 王翔 LI Cui;ZHAO Ming-gang;HE Fang;WANG Xiao-yan;LI Xu;WANG Xiang(Center for Translational Medicine,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China;Department of Clinical Laboratory,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China)
出处 《西安交通大学学报(医学版)》 CAS CSCD 北大核心 2019年第6期993-996,共4页 Journal of Xi’an Jiaotong University(Medical Sciences)
关键词 基因组拷贝数变异测序 染色体异常 染色体核型分析 copy number variation sequencing chromosome abnormality karyotype analysis
  • 相关文献

参考文献8

二级参考文献40

  • 1刘志婷,王军荣,续微,关宝杰.染色体多态性引起生殖异常36例分析[J].中华医学遗传学杂志,2006,23(5):598-599. 被引量:57
  • 2刘琨,张学红.染色体病在胚胎植入前遗传学诊断中的研究与发展[J].中国优生与遗传杂志,2007,15(8):10-12. 被引量:3
  • 3American College of Medical Genetics. Prenatal interphase fluorescence in situ hybridization (FISH) policy statement[J]. Am J Hum Genet, 1993,53(2):526-527.
  • 4Technical and clinical assessment of fluorescence in situ hybridization: an ACMG/ASHG position statement. I. Technical considerations. Test and Technology Transfer Committee[J]. Genet Med, 2000,2(6):356-361.
  • 5American College of Medical Genetics and Genomics. Standards and guidelines for clinical genetics laboratories, Section E: clincal cytogenetics-2011[EB/OL]. [2016-01-25]. https://www.aemg.net/StaticContent/SGs/Section_E_2011 .pdf.
  • 6Schwartz S. Preparation of Amniocytes for Interphase Fluorescence In Situ Hybridization (FISH)[J]. Curr Protoc Hum Genet, 2015,85:8.9.1-8.9.16. DOI: 10.1002/0471142905. hgO809s85.
  • 7Sparkes R, Johnson JA, Langlois S, et al. New molecular techniques for the prenatal detection of chromosomal aneuploidy[J]. J Obstet Gynaecol Can, 2008,30(7):617-627.
  • 8Sheets KB, Crissman BG, Feist CD, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors[J]. J Genet Couns, 2011,20(5):432-441. DOI: 10.1007/s10897-011-9375-8.
  • 9Hong Kong College of Obstetricians and Gynaeeologists.HKCOG Guidelines Number 4 (revised November 2009): Guidelines for amniocentesis and chorionic villus sampling (CVS) [EB/OL]. [2016-01-25]. http://www.hkcog.org.hk/hkcog/ Download/Guidelines_for_Amniocentesis and Chorionic_Vi- llus_Sampling_2009.pdf.
  • 10Nagan N, Faulkner NE, Curtis C, et al. Laboratory guidelines for detection, interpretation, and reporting of maternal cellcontamination in prenatal analyses a report of the association for molecular pathology[J]. J Mol Diagn, 2011, 13(1):7-11. DOI: 10.1016/j.jmoldx.2010.11.013.

共引文献281

同被引文献101

引证文献12

二级引证文献25

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部