特纳综合征患者Y染色体序列的检测  

Identification of Y-chromosome sequences in Turner syndrome

作　　者：严芳[1] 张智[1] 张珍[1] 刘桂治[1] YAN Fang ZHANG Zhi ZHANG Zhen LIU Gui zhi.(Department of Laboratory Medicine, Guangdong Provincial NO.2 People＇s Hospital, Guangzhou, 510317, China)

机构地区：[1]广东省第二人民医院检验医学部,广州510317

出　　处：《中国优生与遗传杂志》2016年第12期60-62,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的观察特纳综合征患者Y染色体序列出现的频率。方法研究本院23位有特纳综合征且知情同意的患者,其中,细胞遗传学是通过培养外周血淋巴细胞进行染色体核型分析,每个病人分析100个核型。基因组DNA是通过提取外周血淋巴细胞DNA,通过聚合酶链式反应扩增基因序列DYZ1、DYZ3、ZFY和SRY。结果细胞遗传学分析显示其中9位病人(39.2%)是45,X的核型,14位病人(60.8%)是嵌合的核型。8.7%(2/23)的病人被发现有Y染色体序列。这个比率与之前报道的近似。在细胞遗传学分析中并没有发现有Y染色体片段,但是通过淋巴细胞DNA分析却发现有Y染色体特异性序列。结论PCR技术显示2位特纳综合征病人(8.7%)有Y染色体序列,而其细胞遗传学分析均存在标记染色体。Objective：To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. Methods：The study included 23 patients with Turner syndrome,who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes,with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes,and gene sequences DYZ1,DYZ3,ZFY and SRY were amplified by Polymerase Chain Reaction. Results：The cytogenetic analysis showed a 45,X karyotype in 9 patients（39.2%）and a mosaic pattern in 14（60.8%）. In 8.7%（2 out of 23）of the patients,Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material,but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. Conclusion：The PCR technique showed that 2（8.7%）of the patients with Turner syndrome had Y-chromosome sequences,both presenting marker chromosomes on cytogenetic analysis.

关 键 词：特纳综合征 Y染色体 聚合酶链式反应 性腺母细胞瘤 

分 类 号：R596[医药卫生—内科学]