细胞与分子遗传学技术联合应用诊断性染色体复杂结构异常病例的研究

发布时间：2018-03-09 03:23

本文选题：性染色体复杂结构异常　切入点：染色体G显带　出处：《中国优生与遗传杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的探讨多种细胞与分子遗传学技术在诊断性染色体复杂结构异常病例中的临床应用价值。方法综合应用染色体G显带、染色体微阵列分析技术(chromosomal microarray analysis,CMA)、聚合酶链式反应(polymerase chain reaction,PCR)及荧光原位杂交(fluorescence in situ hybridization,FISH)技术,诊断11例性染色体复杂结构异常患者的染色体畸变来源及结构特征。结果 G显带结合CMA、FISH检测确定了11例患者的性染色体复杂结构来源,8例社会性别为女性的患者中,4例患者的衍生性染色体的异常片段来源于X染色体,4例患者的衍生性染色体异常结构涉及X染色体和Y染色体重组;3例社会性别为男性的患者中,均存在Y染色体的部分缺失。11例患者中有3例性发育异常男性患者和1例身材矮小的女性患者存在SRY基因扩增产物。结论联合应用多种细胞与分子遗传学技术可为性染色体复杂结构异常患者的明确诊断、发病机制研究及后期治疗提供重要的遗传学依据。
[Abstract]:Objective to explore the clinical application value of various cell and molecular genetic techniques in the diagnosis of complex structural abnormalities of sex chromosomes. Chromosomal microarray analysis, polymerase chain reactionation (PCR) and fluorescence in situ hybridization in situ (fish). The origin and structural characteristics of chromosomal aberrations in 11 patients with complex structure of sex chromosomes were diagnosed. Results the G-banding combined with CMA-FISH analysis confirmed the origin of complex structure of sexual chromosomes in 11 patients. The abnormal segments of the derived chromosomes in 4 patients were derived from the abnormal structure of the derived chromosomes in 4 patients with X chromosomes and the recombination of the Y chromosomes and X chromosomes in 3 male patients of social sex. There were 3 male patients with sexual dysplasia and 1 short female patient with SRY gene amplification products. Conclusion multiple cell and molecular genetics techniques can. For the definite diagnosis of patients with complex structural abnormalities of sex chromosomes, The study of pathogenesis and later treatment provide important genetic basis.
【作者单位】：青岛大学生物教研室;济宁市第一人民医院;青岛市妇女儿童医院青岛大学附属妇女儿童医院基因检测中心;
【分类号】：R440;R596

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