Karyomapping技术在一例成骨不全合并平衡易位的胚胎植入前遗传学诊断中的应用  

Preimplantation genetic testing for a couple where the husband is affected by osteogenesis imperfecta combined with balanced translocation using karyomapping technique

作　　者：牛文彬[1] 霍明珠 史昊 刘益栋 Niu Wenbin;Huo Mingzhu;Shi Hao;Liu Yidong(Center for Reproductive Medicine,Henan Key Laboratory of Reproduction and Genetics,The First Affiliated Hospital of Zhengzhou University,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院生殖医学中心河南省生殖与遗传重点实验室,450052

出　　处：《中华医学遗传学杂志》2021年第11期1068-1072,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81701443);中华医学会临床医学科研专项资金生殖医学青年医师研究与发展项目(17020250694)。

摘　　要：目的为一对男方患有成骨不全症并携带染色体平衡易位的夫妇提供胚胎植入前遗传学诊断(preimplantation genetic testing,PGT)。方法应用Karyomapping技术检测囊胚COL1A1基因c.760G>A(p.Gly254Arg)变异的携带状态,并同时分析染色体非整倍体和平衡易位的携带状态。结果共检测10枚囊胚,其中两枚未携带COL1A1基因c.760G>A(p.Gly254Arg)变异且为整倍体,两枚囊胚均携带平衡易位。女方移植其中一枚囊胚后临床妊娠,孕18周羊水基因和染色体检测结果与囊胚检测结果一致,孕40^(+4)周活产一健康女婴。结论针对合并基因突变和染色体平衡易位两类遗传学异常的患者,Karyomapping技术可实现高效的PGT检测。Objective To carry out preimplantation genetic testing(PGT)for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique.Methods Blastocysts were detected using karyomapping,the carrier status of COL1A1 c.760G>A(p.Gly254Arg)variant and the carrier status of the translocated chromosome were analyzed simultaneously.Results For a total of 10 blastocysts,two euploid blastocysts were found to not carry the COL1A1 c.760G>A(p.Gly254Arg)variant but a balanced translocation.After transplanting one of the blastocysts,clinical pregnancy was achieved.Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40^(+4)weeks gestation.Conclusion For patients simultaneously carrying genetic variant and balanced chromosomal translocation,PGT can be performed with efficiency by the use of karyomapping method.

关 键 词：成骨不全 COL1A1基因 平衡易位 Karyomapping 平衡易位区分 

分 类 号：R681.1[医药卫生—骨科学] R714.8[医药卫生—外科学]