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微阵列-比较基因组杂交技术检测染色体异常 被引量：1

Detection of Chromosomal Abnormalities by Microarray Comparative Genomic Hybridization
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摘要 近年微阵列-比较基因组杂交(microarray comparative genomic hybridization,microarray-CGH)技术被应用到临床细胞遗传学领域。该技术是选择DNA特殊片段作为靶,固化在载体上,形成密集、有序的分子微阵列。然后,从测试标本中提取DNA,将测试DNA和参考DNA用不同的荧光色素标记,杂交到微阵列上,通过检测这两种荧光色素的比率,了解待测标本基因拷贝数的变化。其能够检测染色体亚微结构异常。微阵列技术已成为一个重要的工具,用于产前、产后和植入前诊断染色体亚微结构异常。 Microarray comparative genomic hybridization （microarray-CGH） has been applied in the field of clinical cytogenetics in recent years The principle of the technology is that special DNA fragment is chosen to be a target, which is solidified in a cartier to form a dense and orderly molecular mieroarray. Then DNA samples are extracted form the testing specimens, and the testing DNA and reference DNA are labeled with different flnorochromes and hybridized to the mieroarray. The changes of gene copy numbers in testing samples are determined by detecting the ratio of the two fluorochromes. Mieroarray-CGH can detect the sub-mierostructure abnormalities in chromosome. Micruarray technology has become an important instrument for detecting chromosomal abnormalities in prenatal, postnatal and preimplantation diagnosis.
作者 赵晓曦 其木格
机构地区 内蒙古医学院第一附属医院妇产科
出处 《国际生殖健康／计划生育杂志》 CAS 2009年第4期230-232,共3页 Journal of International Reproductive Health/Family Planning
关键词 分子核型 微阵列-比较基因组杂交 染色体亚微结构异常 Molecular karyotype Microarray-CGH Chromosomal sub-microstructure abnormality
分类号 R450 [医药卫生—治疗学]
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参考文献20

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同被引文献30

  • 1方菊雄,陈嘉祥.Chromosomal Abnormalities and Gene Discovery in Schizophrenia[J].台湾精神医学,2007,21(4):242-252.
  • 2Baris HN,Tan WH,Kimonis VE,et al.Diagnostic utility of array-based comparative genomic hybridization in a clinical setting[J].Am J Med Gnet A,2007,143A (21):2523-2533.
  • 3Fan YS,Jayakar P,Zhu H,et al.Detction of pathionogenic gene copy number variations in patients with mental retardation by genomwide oligonucleotide array comparative genomic hybridization[J].Hum Mutat,2007,28(11):1124-1132.
  • 4Jaillard S,Drunat S,Bendavid C,et al.Identification of genecopy number variations in patints with mental retardation using array-CGH:Novel syndroms in a large French series[J].EurJ Med Gennt,2010,53(2):66-75.
  • 5Pickering DL,Eudy JD,Clney AH,et al.Arraybased comparative genomic hybridization analysis of 1176 consecutive clinical genetics inestigations[J].Genet Med,2008,10(4):262-266.
  • 6Shen Y,Irons M,Miller DT,et al.Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance[J].Clin Chem,2007,53(12):2051-2059.
  • 7Miyake N,Shimokawa O,Harada N,et al.BAC array CGH reveals genomic aberrations in idiopathic mental retardation[J].Am J Med Genet A,2006,140(3):205-211.
  • 8Stumm M,Klopocki E,Gasiorek-Wiens A,et al.Molecular cytogenetic characterisation of an interstiial deletion 12p detected by prenatal diagnosis[J].Prenat Diagn,2007,27(5):475-478.
  • 9Lisi EC,Hamosh A,Doheny KF,et al.3q29 interstitial microduplication:a new syndrome in a three-generation family[J].Am J Med Genet A,2008,146A(5):601-609.
  • 10Delahaye A,Bitoun P,Drunat S,et al.Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies[J].Eur J Hum Genet,2012,20(5):527-533.

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国际生殖健康／计划生育杂志
2009年 第4期

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