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15%-20%的妊娠因为自发流产而中止,其中约50%是因为染色体异常所致。夫妇中的一方为平衡的染色体异常携带者时,即可能产生不平衡的配子和胚胎,临床症状可以有不同程度的变化:如不育、反复流产、甚至产出染色体综合症的患儿。以临床接诊的一对具有反复自然流产史夫妇为研究对象,常规进行精液、激素水平检测。取患者外周血淋巴细胞用RPMI1640培养基进行短期培养,经低渗、固定处理制备染色体标本片,对染色体数目和结构进行核型分析。选用特异的21qter和14qterDNA标记作为探针,对患者外周血淋巴细胞中期染色体进行FISH分析。运用FISH技术对患者精子细胞进行研究,配合流式细胞分析技术对精细胞DNA组份进行检测,分析配子中遗传物质的组成及各种类型配子的比例。结果发现女方核型正常为46,XX,男方核型为罗伯逊易位的携带者45,XY,-14,-21,+t(14;21)。患者外周血体细胞的分裂相染色体FISH显示一个细胞中分别存在1个红色的21qter和1个绿色的14qter杂交信号,另外有1个红色和1个绿色信号共同存在于一条由易位形成的亚中着丝粒染色体上。在患者精液样本的精细胞FISH研究中,可以观察到5种不同类型的杂交信号,异常的配子的种类与理论推断相同,但各型所占的比例有其特点,结合精液中精细胞流式细胞术的分析表明,平衡的单倍体配子占71%,不平衡的配子占29%。通过国内外文献资料统计,对罗伯逊易位染色体的常见和罕见类型进行综述,为其生育的临床治疗方案提供建议。
Between 15% and 20% of pregnancies stop because of spontaneous abortion, of which about 50% are due to chromosomal abnormalities. When one of the couples is a balanced carrier of chromosomal abnormalities, unbalanced gametes and embryos may develop and clinical symptoms may vary to varying degrees: children with infertility, recurrent abortion, and even chromosomal syndrome. A pair of clinical admissions with a history of repeated spontaneous abortion as the research object, conventional semen, hormone levels. Peripheral blood lymphocytes from patients were cultured in RPMI1640 medium for short-term culture. After hypotonic and fixed treatment, chromosome specimens were prepared and karyotypes were analyzed for chromosome number and structure. Selection of specific 21qter and 14qterDNA markers as probes for peripheral blood lymphocytes in patients with metaphase FISH analysis. FISH was used to study the spermatids of patients, with the detection of sperm DNA components by flow cytometry, the composition of genetic material in gametes and the proportion of various types of gametes were analyzed. The results showed that the normal karyotype of the woman was 46, XX, and the male karyotype was 45, XY, -14, -21, + t (14; 21) with Robertsonian translocation. Chromosome FISH of peripheral blood somatic cells showed that there were one red 21qter and one green 14qter hybridization signal in one cell, and one red and one green signal co-existed in one translocation In centromere chromosomes. In the sperm cell FISH study, five different types of hybridization signals were observed. The types of abnormal gametes were the same as the theoretical ones. However, the proportion of each type had its own characteristics. Combined with the sperm flow cytometry Cytometry analysis showed that balanced haploid gametes accounted for 71%, unbalanced gametes accounted for 29%. Through the literature statistics at home and abroad, the common and rare types of Robertsonian translocations are reviewed to provide suggestions for the clinical treatment of fertility.