畸形精子症患者精子染色体非整倍体的研究

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目的:研究畸形精子症患者精子染色体的非整倍体率。方法:应用18号、X和Y染色体着丝粒探针,采用荧光原位杂交(FISH)技术比较畸形精子症患者(畸精组,n=18)和生育力正常且精子正常形态率、浓度、活力等均正常男性(对照组,n=5)精子中18号、X和Y染色体的非整倍体率。结果:畸精组共计数精子58 178条,对照组共计数精子16 369条。畸精组和对照组杂交效率分别为97.5%和98.3%;染色体非整倍体类型主要有二体(XX18、YY18、XY18、Y1818和X1818)和二倍体(1818XX、1818YY、1818XY)。畸精组和对照组的18号染色体二体率分别为0.29±0.16%和0.03±0.02%,性染色体二体率分别为0.65±0.24%和0.05±0.02%,二倍体率分别为0.14±0.12%和0.04±0.03%。18号、X和Y染色体非整倍体率组间均有统计学差异(P<0.05)。结论:与生育力和精液各参数均正常男性相比,畸形精子症患者18号、X和Y染色体非整倍体率明显升高。 Objective: To study the aneuploidy rate of sperm chromosomes in patients with schizophrenia. Methods: Fetal probes of X and Y chromosomes 18 were used to compare the normal fertility and normal fertility of sperm (n = 18) , Normal vitality and other normal male (control group, n = 5) sperm in 18, X and Y chromosome aneuploidy rate. Results: There were 58 178 spermatozoa in the abnormal group and 16 369 sperms in the control group. The efficiency of hybridization was 97.5% and 98.3% respectively for the abnormal group and the control group. There were two major types of aneuploidy (XX18, YY18, XY18, Y1818 and X1818) and diploid (1818XY, 1818YY, 1818XY). The chromosome numbers of chromosome 18 on chromosome 18 and control group were 0.29 ± 0.16% and 0.03 ± 0.02%, 0.65 ± 0.24% and 0.05 ± 0.02% on sex chromosome respectively, and the diploid rates were 0.14 ± 0.12% and 0.04 ± 0.03%. On the 18th, there was a significant difference between X and Y chromosome aneuploidy rates (P <0.05). Conclusion: Compared with normal male fertility and semen parameters, the rates of aneuploidy of X and Y chromosomes were significantly increased in patients with schizophrenia on the 18th.
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