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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摘要目的探讨不同性别平衡易位携带者胚胎植入前遗传学检测（PGT）染色体组构成情况及不同亲本来源对子代染色体形成的影响。方法选取柳州市妇幼保健院2017年1月至2021年6月行外周血染色体检查的不孕不育夫妇进行核型分析，筛选出平衡易位携带者，并对平衡易位携带者夫妇实施辅助生殖技术，对囊胚期胚胎采用高通量测序技术进行PGT，对不同性别的染色体平衡易位携带者囊胚期胚胎染色体组类型和构成情况进行分析比较。结果通过染色体核型分析，共筛选出113对双方之一为染色体平衡易位携带者夫妇，女性携带者42例，男性携带者71例。应用高通量测序行胚胎植入前染色体结构变异检测（PGT-SR），共检测738个囊胚期胚胎，获得可移植胚胎168个，其中来自男性携带者的126个，来自女性携带者的42个。男性相互平衡携带者获得可移植胚胎率、单纯不平衡胚胎率、散发性异常胚胎率、复杂性异常胚胎率分别为27.8%、19.6%、41.6%、38.8%；女性相互平衡携带者获得可移植胚胎率、单纯不平衡胚胎率、散发性异常胚胎率、复杂性异常胚胎率分别为15.5%、25.9%、32.9%、41.2%。不同亲本来源的可移植胚胎率比较，差异有统计学意义（父源27.8%，母源15.5%，χ2=15.253，P<0.05）；单纯不平衡胚胎率比较，差异无统计学意义（父源19.6%，母源25.9%，χ2=3.096，P>0.05）；不同亲本来源的散发性异常胚胎率比较，差异有统计学意义（父源41.6%，母源32.9%，2=4.310，P<0.05）；不同亲本来源的复杂性异常胚胎率比较，差异无统计学意义（父源38.8%，母源41.2%，χ2=0.320，P>0.05）。结论女性相互平衡易位携带者获得可移植胚胎率和散发性异常胚胎率显著低于男性携带者，单纯不平衡胚胎率及复杂性异常胚胎率均高于男性携带者。

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	何萍
	李哲涛
	王文丹
	韦朔峰
	严提珍

关键词 ：染色体核型, 平衡易位携带, 胚胎植入前遗传学检测, 高通量测序

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

基金资助:广西壮族自治区卫生和计划生育委员会自筹经费科研课题（Z20170533、Z20180037、Z20180039、Z20180041）。

引用本文:

何萍；李哲涛；王文丹；韦朔峰；严提珍. 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[J]. 中国当代医药, 2021, 28(32): 9-13转18.
HE Ping；LI Zhe-tao；WANG Wen-dan；WEI Shuo-feng；YAN Ti-zhen. Related genetic analysis for preimplantation genetic testing in carriers of balanced translocations with different genders. 中国当代医药, 2021, 28(32): 9-13转18.

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http://dangdaiyiyao.com/CN/ 或 http://dangdaiyiyao.com/CN/Y2021/V28/I32/9

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