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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 observe the frequency of Y chromosome sequence in patients with Turner syndrome. METHODS: Twenty-three patients with Turner’s syndrome and informed consent were enrolled in this study. Among them, cytogenetics was performed by culturing peripheral blood lymphocytes for karyotype analysis of 100 karyotypes per patient. Genomic DNA is obtained by extracting DNA from peripheral blood lymphocytes and amplifying the gene sequences DYZ1, DYZ3, ZFY and SRY by polymerase chain reaction. Results Cytogenetic analysis showed that nine patients (39.2%) were 45, the karyotype of X, and 14 patients (60.8%) were chimeric karyotype. 8.7% (2/23) of the patients were found to have the Y chromosome sequence. This ratio is similar to what we reported before. No Y chromosome fragment was found in cytogenetic analysis, but a Y chromosome-specific sequence was found by lymphocyte DNA analysis. Conclusions PCR showed that there were Y chromosome sequences in 2 Turner syndrome patients (8.7%), and chromosomes were present in their cytogenetic analysis.