人卵母细胞荧光原位杂交中21号染色体检测：母亲年龄的可能影响
Chromosome 21 detection in human oocyte fluorescence in situ hybridization: possible effect of maternal age.
作者信息
Benzacken B, Martin-Pont B, Bergère M, Hugues J N, Wolf J P, Selva J
机构信息
Service d'Histologié, Embryologie, Cytogénétique et Biologie de la Reproduction, Hôpital Jean Verdier, Bondy, France.
出版信息
J Assist Reprod Genet. 1998 Mar;15(3):105-10. doi: 10.1023/a:1023056502731.
PURPOSE
The purpose of this study was to evaluate, among 100 uncleaved oocytes, the incidence of numerical and structural chromosome 21 and X abnormalities and to analyze the influence of various factors, such as in vitro (IVF) indications, follicle stimulation protocols, and women's age.
METHODS
We investigated 150 uncleaved oocytes from 128 patients after an IVF attempt. After cytogenetic analysis (Giemsa) 100 oocytes (66%) were selected for fluorescence in situ hybridization (FISH). Fluorescent probes for human chromosomes X and 21 were used simultaneously according to standard procedures for their hybridization and detection.
RESULTS AND CONCLUSIONS
We analyzed by the FISH protocol 100 metaphase II oocytes with 22 to 25 chromosomes. Our results demonstrate a high rate of disomy for chromosome 21 in human oocytes. Among them, eight were disomic (8%) and three were nullosomic (3%) for chromosome 21. Only one disomy of chromosome X was noted. The various indications of IVF and the different folliculogenesis stimulating protocols did not seem to influence the results but suggested a correlation between the maternal age and the aneuploidy rate of chromosome 21.
目的
本研究旨在评估100枚未受精卵母细胞中21号染色体和X染色体数目及结构异常的发生率，并分析体外受精（IVF）指征、卵泡刺激方案及女性年龄等多种因素的影响。
方法
我们对128例患者进行IVF尝试后获取的150枚未受精卵母细胞进行了研究。在细胞遗传学分析（吉姆萨染色）后，选取100枚卵母细胞（66%）进行荧光原位杂交（FISH）。按照标准程序同时使用人X和21号染色体的荧光探针进行杂交和检测。
结果与结论
我们采用FISH方案分析了100枚具有22至25条染色体的中期II卵母细胞。我们的结果显示人类卵母细胞中21号染色体的二体率较高。其中，21号染色体八枚为二体（8%），三枚为缺体（3%）。仅发现一枚X染色体二体。IVF的各种指征和不同的卵泡发生刺激方案似乎并未影响结果，但提示产妇年龄与21号染色体非整倍体率之间存在相关性。
Zotero 插件