Bouwman Aniek C, Mullaart Erik
Animal Breeding & Genomics, Wageningen University & Research, PO Box 338, 6700 AH Wageningen, the Netherlands.
CRV B.V., Wassenaarweg 20, 6843 NW, Arnhem, the Netherlands.
JDS Commun. 2023 Jan 31;4(2):101-105. doi: 10.3168/jdsc.2022-0275. eCollection 2023 Mar.
In cattle, pregnancy rates of in vitro-produced embryos are lower than those of in vivo-produced embryos. One of the reasons may be the increase in chromosomal aberrations due to in vitro maturation and fertilization of the oocyte. Currently, embryo transfer is commonly applied in nucleus cattle breeding programs, and the embryos are genotyped for genomic selection. Therefore, intensity data from SNP arrays can be exploited for preimplantation genetic testing by screening the intensity data of the embryos for unbalanced chromosomal aberrations. A total of 558 stage 8 Dutch Holstein embryos genotyped with SNP arrays were screened in an observational study in retrospect. We found a 5% incidence rate of unbalanced chromosomal aberrations (aneuploidy and ploidy issues) among 430 successfully genotyped cattle embryos. The 22 affected embryos showed either aneuploidy or ploidy issues; monosomy was most frequently observed (14/22). In most cases (16/19) the maternal chromosome or chromosomes were lost or gained. One of the monosomy cases gave rise to a live-born fully diploid individual, suggesting mosaicism. Given that embryo genotypes are readily available, monitoring incidence can easily be applied. Moreover, selection for euploid embryos may improve pregnancy rates for in vitro embryo transfer.
在牛中,体外生产胚胎的妊娠率低于体内生产胚胎的妊娠率。原因之一可能是卵母细胞体外成熟和受精导致染色体畸变增加。目前,胚胎移植常用于核心牛育种计划,并且对胚胎进行基因分型以进行基因组选择。因此,通过筛选胚胎的强度数据以检测染色体不平衡畸变,单核苷酸多态性(SNP)阵列的强度数据可用于植入前基因检测。在一项回顾性观察研究中,对总共558个用SNP阵列进行基因分型的荷兰荷斯坦8期胚胎进行了筛选。我们发现在430个成功进行基因分型的牛胚胎中,染色体不平衡畸变(非整倍体和倍性问题)的发生率为5%。22个受影响的胚胎表现出非整倍体或倍性问题;单体性最为常见(14/22)。在大多数情况下(16/19),母源染色体丢失或增加。其中一个单体性病例产生了一个活产的完全二倍体个体,提示存在嵌合体现象。鉴于胚胎基因型易于获得,监测发生率很容易实现。此外,选择整倍体胚胎可能会提高体外胚胎移植的妊娠率。