array-CGH在产前诊断染色体疾病中的应用

被引：6

作者：

杨继青 ^{[1
,2
]}

朱宝生 ^{[1
,2
,3
]}

机构：

[1] 昆明医科大学

[2] 云南省第一人民医院遗传诊断中心

[3] 云南省出生缺陷与遗传病研究重点实验室

来源：

临床检验杂志 | 2012年 / 30卷 / 11期

关键词：

微阵列比较基因组杂交; 产前诊断; 基因组拷贝数变异; 染色体疾病;

D O I：

10.13602/j.cnki.jcls.2012.11.027

中图分类号：

R714.5 [胎儿];

学科分类号：

摘要：

微阵列比较基因组杂交技术(array-based comparative genomic hybridization,array-CGH)结合了比较基因组杂交技术(CGH)、微阵列芯片技术(micro-array)的优势,在分子遗传学中广泛应用于全基因组水平的拷贝数分析。array-CGH在产前诊断染色体疾病中的应用相比于传统的细胞遗传学核型分析技术以及荧光原位杂交技术(FISH)、多重荧光定量PCR(QF-PCR)、多重连接探针扩增技术(MLPA)等分子遗传学技术具有高通量、高分辨、高灵敏度、操作自动化等优势;能够检测出相当一部分常规核型分析技术不易发现的染色体微缺失和微重复综合征,以及亚端粒或者其他不平衡的染色体重排。目前用array-CGH进行全基因组扫描进行产前诊断,判断和评估所检出的拷贝数变异(CNVs)的临床意义有一定难度。对不同位点CNVs出现频率及临床意义研究可能会是近期研究热点之一。

引用

页码：909 / 912

页数：4

共 36 条

[1] Comparative genomic hy-bridization array analysis enhances the detection of aneuploidies andsubmicroscopic imbalances in spontaneous miscarriages. Schaeffer AJ,Chung J,Heretis K,et al. The American Journal of Human Genetics . 2004
[2] Prenatal diagnosis of chromo-somal abnormalities using array-based comparative genomic hybridiza-tion. Sahoo T,Cheung SW,Ward P,et al. Genetics in Medicine . 2006
[3] The array CGH and its clinical applications. Marwan S,Cheung SW. Drug Discovery Today . 2012
[4] The Identification of microde-letion syndromes and other chromosome abnormalities:cytogenetiemethods of the past,new technologies for the future. Shafer LG,Bassem BA,Torchia B,et al. Am J MedGenet C Semin Med Genet . 2007
[5] Prenatal detection of a subtleunbalanced chromosome rearrangement by karyotyping,FISH and ar-ray comparative genomic hybridization. Cain CC,Saul DO,Oehler E,et al. Fetal Diagnosis and Therapy . 2008
[6] Non-invasive prenatal diagnostics of aneuploidy using next-generationDNA sequencing technologies,and clinical considerations. Nepomnyashchaya YN,Artemov AV,Roumiantsev SA,et al. Clinical Chemistry and Laboratory Medicine . 2012
[7] Clinical use of arraycomparative genomic hybridization (aCGH)for prenatal diagnosis in300 cases. Van den Veyver IB,Patel A,Shaw CA,et al. Prenatal Diagnosis . 2009
[8] Presence of fetal DNA in maternal plasma and serum
Lo, YMD
Corbetta, N
Chamberlain, PF
Rai, V
Sargent, IL
Redman, CWG
Wainscoat, JS
[J]. LANCET, 1997, 350 (9076) : 485 - 487
[9] Ring chromosome 15: characterization by array CGH[J] . Ian A. Glass,Katherine A. Rauen,Emily Chen,Jillian Parkes,Donna G. Alberston,Daniel Pinkel,Philip D. Cotter. &nbspHuman Genetics . 2006 (5)
[10] Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Miura, Shoko
Miura, Kiyonori
Masuzaki, Hideaki
Miyake, Noriko
Yoshiura, Koh-ichiro
Sosonkina, Nadiya
Harada, Naoki
Shimokawa, Osamu
Nakayama, Daisuke
Yoshimura, Shuichiro
Matsumoto, Naomichi
Niikawa, Norio
Ishimaru, Tadayuki
[J]. JOURNAL OF HUMAN GENETICS, 2006, 51 (05) : 412 - 417

← 1 2 3 4 →