不同性别平衡易位携带者胚胎植入前遗传学检测相关遗传学分析

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Abstract Objective To explored the preimplantation genetic testing (PGT)in carriers of balanced translocations with different genders chromosome group composition situation and the influence of different parental sources on the chromosome formation of offspring.Methods The infertile couples who have undergone peripheral blood chromosome examination in Liuzhou Maternal and Child Health Hospital from January 2017 to June 2021 were selected for karyotype analysis,and balanced translocation carriers were screened out,and assisted reproductive technology was implemented for the balanced translocation carrier couples.Stage embryos use high-throughput sequencing technology for embryo PGT,and analyze and compare the types and composition of blastocyst stage embryo chromosomes of carriers of chromosomal balance translocations of different sexes.Results Through chromosome karyotype analysis,a total of 113 couples with one of them as carriers of balanced chromosomal translocation were screened,fourty-two female carriers and seventyone male carriers.Using high-throughput sequencing to perform preimplantation genetic testing for structural rearrangements(PGT-SR)detection,a total of 738 blastocyst stage embryos and obtained 168 transferable embryos were detected,126 were from male carriers,and 42 were from female carriers.The rate of obtaining transferable embryos,the rate of simple unbalanced embryos,the rate of sporadic abnormal embryos,and the rate of complex abnormal embryos were respectively 27.8%,19.6%,41.6%,and 38.8% of male interbalanced carriers.The rate of obtaining transferable embryos,the rate of simple unbalanced embryos,the rate of sporadic abnormal embryos,and the rate of complex abnormal embryos were respectively 15.5%,25.9%,32.9%,41.2% of female interbalanced carriers.The rate of transferable embryos from different parental sources was compared,with significantly different(27.8% from paternal origin,15.5% from maternal origin,χ2=15.253,P<0.05).There was no significant difference in the rate of unbalanced embryos(19.6% from paternal origin,25.9% from maternal origin,χ2=3.096,P>0.05).The rate of sporadic abnormal embryos from different parental origins was compared,with significantly different(41.6% from paternal origin,32.9% from maternal origin,χ2=4.310,P<0.05).There was no significant difference in the rate of complex abnormal embryos (38.8% from paternal origin,41.2% from maternal origin,χ2=0.320,P>0.05).Conclusion The rate of female reciprocal translocation carriers obtaining transferable embryos and the rate of sporadic abnormal embryos were significantly lower than those of male carriers,and the rates of simple unbalanced embryos and complex abnormal embryos were higher than those of male carriers.

Key words： Karyotype Balanced translocation carrier Preimplantation genetic testing High-throughput sequencing

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	Articles by authors
	HE Ping
	LI Zhe-tao
	WANG Wen-dan
	WEI Shuo-feng
	YAN Ti-zhen

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HE Ping,LI Zhe-tao,WANG Wen-dan, et al. Related genetic analysis for preimplantation genetic testing in carriers of balanced translocations with different genders[J]. 中国当代医药, 2021, 28(32): 9-13转18.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2021/V28/I32/9

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