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目的分析染色体G显带核型异常患者基因拷贝数变异(CNVs)情况,探讨微阵列比较基因组杂交(array CGH)技术在染色体异常细胞遗传学分析中的作用。方法收集受试者外周血标本,array CGH技术分析染色体易位、标记染色体以及性染色体异常患者CNVs情况及其临床意义。结果 array CGH分析发现染色体核型为45,XY,t(18;21)(18p11;21p11),15ps+的易位患者染色体18p11.3存在缺失,17q21.31存在扩增,18号染色体与21号染色体为非平衡易位,未检测到染色体15ps+相关CNVs;核型为47,XX,15ps-,+mar患者存在Y染色体相关CNVs,其标记染色体可能来源于Y染色体;核型为45,X/46,XY的性染色体异常患者染色体15q11.2存在缺失、15q13.3和22q11.23存在扩增,未检测到性染色体数目异常相关CNVs。结论 array CGH技术在临床细胞遗传学分析中具有重要的价值,该技术应用于CNVs分析有利于筛查病理性CNVs,明确染色体易位类型,辅助了解标记染色体的来源,但可能不适用于嵌合体以及染色体随体异常的检测。
Objective To analyze the gene copy number variation (CNVs) in patients with karyotypic abnormality of chromosome G and to explore the role of array CGH in chromosomal aberration cytogenetic analysis. Methods Peripheral blood samples were collected from peripheral blood of patients, and the array CGH technique was used to analyze the CNVs in patients with chromosomal translocations, marker chromosomes and sex chromosome abnormalities and their clinical significance. The results of array CGH analysis showed that the chromosomal karyotype was 45, XY, t (18; 21) (18p11; 21p11), the deletion of chromosome 18p11.3 was present in 15ps + translocations, the presence of 17q21.31 was amplified. Chromosomes were non-equilibrium translocations and no chromosome 15ps + related CNVs were detected. The karyotypes were 47, XX, 15ps-, + mar patients with Y chromosome related CNVs. The marker chromosomes were probably derived from chromosome Y. The karyotype was 45, X / 46, XY sex chromosome abnormalities in patients with chromosome 15q11.2 absence of 15q13.3 and 22q11.23 there is amplification, no detection of sex chromosome abnormalities associated CNVs. Conclusion The technique of array CGH is of great value in clinical cytogenetic analysis. This technique is useful for screening pathological CNVs in CNVs, clarifying the types of chromosomal translocations and helping to understand the origin of the marker chromosomes, but may not be suitable for chimeras As well as chromosomal abnormalities with the detection.