Cytogenetic signatures of recurrent pregnancy losses.
Cytogenetic signatures of recurrent pregnancy losses.
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DOI：
10.1002/pd.5838
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发表时间：
2021-01
影响因子：
3
通讯作者：
Rajkovic A
中科院分区：
文献类型：
--
作者：
Yatsenko SA;Quesada-Candela C;Saller DN;Beck S;Jaffe R;Kostadinov S;Yanowitz J;Rajkovic A
研究自然流产（SM）和复发性流产（RPL）患者受孕产物（POC）中染色体异常的发生率，并确定导致RPL的生物学机制。在20年的时间里，12 096 POC样本进行了经典的染色体分析。比较SM和RPL队列之间的细胞遗传学结果。对RPL队列的分析发现，遗传性和从头结构染色体异常、复发性多倍体妊娠和复杂嵌合体改变的发生率增加。这些异常是基因组不稳定性的标志，对后代造成遗传异常的高风险，与母亲年龄无关。RPL队列中男性受孕占优势，这表明X连锁病因学和性别特异性对某些遗传异常的不耐受。我们的研究显示了RPL的几种可能的遗传病因，包括亲本结构染色体重排，减数分裂不分离的倾向和基因组不稳定性。核型正常胎儿的丢失可能归因于胎儿发育所必需的基因缺陷，以及影响X染色体的畸变。父母和POC基因组的分子研究将有助于确定参与减数分裂和DNA修复的基因中的遗传缺陷，以证实我们的假设，并发现新的胎儿必需基因。
To investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL) and to determine biological mechanisms contributing to RPL. During a 20-year period, 12 096 POC samples underwent classical chromosome analysis. Cytogenetic findings were compared between the SM and RPL cohorts. Analysis of RPL cohort has identified an increased incidence of inherited and de novo structural chromosome abnormalities, recurrent polyploid conceptions, and complex mosaic alterations. These abnormalities are the signature of genomic instability, posing a high risk of genetic abnormalities to offspring independent of maternal age. Predominance of male conceptions in the RPL cohort points toward an X-linked etiology and gender-specific intolerance for certain genetic abnormalities. Our study showed several possible genetic etiologies of RPL, including parental structural chromosome rearrangements, predisposition to meiotic nondisjunction, and genomic instability. Loss of karyotypically normal fetuses might be attributed to defects in genes essential for fetal development, as well as aberrations affecting the X chromosome. Molecular studies of parental and POC genomes will help to identify inherited defects in genes involved in meiotic divisions and DNA repair to confirm our hypotheses, and to discover novel fetal-essential genes.
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影响因子：
--
作者：
Nikitina, Tatiana V;Sazhenova, Elena A;Lebedev, Igor N
通讯作者：
Lebedev, Igor N
影响因子：
9.8
作者：
Dong, Zirui;Yan, Junhao;Chen, Zi-Jiang
通讯作者：
Chen, Zi-Jiang
影响因子：
6.7
作者：
Ogasawara, M;Aoki, K;Suzumori, K
通讯作者：
Suzumori, K
影响因子：
16.6
作者：
通讯作者：
--
DOI：
10.2147/ijwh.s100817
发表时间：
2017
期刊：
International journal of women's health
影响因子：
--
作者：
El Hachem H;Crepaux V;May-Panloup P;Descamps P;Legendre G;Bouet PE
通讯作者：
Bouet PE