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目的分别采用SNP-array CGH及G-显带核型分析对一例智力低下孕妇外周血及新生儿脐带血标本进行检测,初步探讨21三体综合征妇女生育正常后代的机制及相关伦理问题。方法对1例智力低下孕妇抽取外周血,对新生儿抽取脐带血,取200μL提取DNA后采用SNP-array CGH技术进行检测,取1m L进行培养,常规制备染色体,G显带,然后进行核型分析。结果孕妇外周血核型为47,XX,+21;新生儿脐带血染色体核型为46,XX。结论 21三体综合征患者的生殖细胞在发生第一次及第二次减数分裂后能产生正常的单倍体生殖细胞(23,X),与其丈夫正常单倍体生殖细胞(23,X)受精后,能分娩正常核型的婴儿。
OBJECTIVE: To detect the serum levels of umbilical cord blood and peripheral blood of pregnant women with mental retardation and neonatal umbilical cord blood samples using SNP-array CGH and G-banding karyotype analysis, and to explore the mechanism and related ethical issues of the normal offspring of 21 trisomy syndrome women. Methods Peripheral blood was drawn from 1 pregnant woman with mental retardation. Umbilical cord blood was drawn from newborns. DNA was extracted from 200 μL of embryos and detected by SNP-array CGH. Cultured with 1 m L, chromosomes and G bands were routinely prepared and karyotypes analysis. Results The karyotype of peripheral blood of pregnant women was 47, XX, +21. The neonatal cord blood chromosome karyotype was 46, XX. CONCLUSIONS: In the trisomy 21 patients, the germ cells can produce normal haploid germ cells (23, X) after the first and second meiosis, compared with their husbands normal haploid germ cells (23, X After fertilization, can give birth to the normal karyotype of infants.