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利用第一极体进行植入前非整倍体诊断。

The use of first polar bodies for preimplantation diagnosis of aneuploidy.

作者信息

Munné S, Dailey T, Sultan K M, Grifo J, Cohen J

机构信息

Center for Reproductive Medicine and Infertility, New York Hospital-Cornell University Medical College, NY 10021, USA.

出版信息

Hum Reprod. 1995 Apr;10(4):1014-20. doi: 10.1093/oxfordjournals.humrep.a136027.

DOI:10.1093/oxfordjournals.humrep.a136027
PMID:7650111
Abstract

A large proportion of patients undergoing in-vitro fertilization (IVF) are aged > or = 35 years. It has been estimated that in this age group, 50% of embryos are chromosomally abnormal, with aneuploidy being the major contributing factor. Since the origin of most aneuploidies is maternal meiosis I non-disjunction, unfertilized oocytes could be safely screened for aneuploidy by analysing their first polar bodies. To determine the feasibility of first polar body aneuploidy analysis, polar bodies were analyzed by fluorescence in-situ hybridization (FISH) using probes simultaneously for chromosomes X, Y, 18, 13/21 or X, Y, 18 and 16. Within 6 h of retrieval, 88% showed a normal segregation involving a single chromosome of each kind, with double-dotted hybridization signals, corresponding to dyads (chromosomes in metaphase I composed of two chromatids). The rest showed non-disjunction of full dyads (6%), or an unbalanced pre-division of dyads (6%), which gives a segregation of one chromatid or one dyad and a chromatid with the first polar body. But only 34% of polar bodies analysed 24 h after retrieval or later showed a normal segregation, with most of the other polar bodies showing balanced pre-division, with two separated hybridization signals for all the chromosomes analysed. The rates of non-disjunction and unbalanced pre-division after > or = 24 h in culture were similar to the rates in fresh oocytes. When both types of aneuploidy were considered together, an increase of aneuploidy with maternal age was detected, which although slight, was significant (P = 0.025).(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

很大一部分接受体外受精(IVF)的患者年龄≥35岁。据估计,在这个年龄组中,50%的胚胎存在染色体异常,非整倍体是主要因素。由于大多数非整倍体起源于母本减数分裂I不分离,未受精的卵母细胞可通过分析其第一极体来安全地筛查非整倍体。为了确定第一极体非整倍体分析的可行性,使用针对X、Y、18、13/21或X、Y、18和16号染色体的探针,通过荧光原位杂交(FISH)分析极体。在取出后6小时内,88%的极体显示每种染色体单条的正常分离,有双点杂交信号,对应于二分体(中期I由两条染色单体组成的染色体)。其余的显示全二分体不分离(6%),或二分体的不平衡前期分裂(6%),导致一条染色单体或一个二分体与第一极体分离出一条染色单体。但在取出24小时或更晚后分析的极体中,只有34%显示正常分离,其他大多数极体显示平衡前期分裂,所有分析的染色体都有两个分开的杂交信号。培养≥24小时后的不分离率和不平衡前期分裂率与新鲜卵母细胞中的比率相似。当将两种类型的非整倍体一起考虑时,检测到非整倍体随母本年龄增加,尽管增幅很小,但具有显著性(P = 0.025)。(摘要截短于250字)

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