一家系3例染色体平衡易位的遗传学分析  

Genetic analysis of three chromosomal balanced translocations in a family

作　　者：程世斌 朱韶华 贾春暘 马海栋 王连[1,2] CHENG Shibin;ZHU Shaohua;JIA Chunyang;MA Haidong;WANG Lian(Medical Genetics Center,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China;Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃兰州730050 [2]甘肃省出生缺陷防控重点实验室与罕见病临床研究中心,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2023年第9期1899-1902,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 报道一家系3例染色体平衡易位,并对其遗传学特点进行分析。方法 采用外周血淋巴细胞培养技术对一家系7人进行染色体核型分析,对先证者流产绒毛行基因组拷贝数变异测序(CNV-seq)。结果 该家系中发现两代人有3人染色体为t(1;3)平衡易位,先证者流产绒毛CNV-seq检测提示:1号染色体q43-q44处缺失9.38 Mb区域,3号染色体q25.2-q29处重复43.42 Mb区域。结论 染色体平衡易位是导致流产、死胎等不良妊娠结局的重要原因。CNV-seq和染色体核型分析技术相结合可提高染色体异常诊断的准确性。此外,女性平衡易位携带者较男性具有更高风险形成染色体异常的胚胎。Objective To report 3 cases of balanced chromosome translocation in a family and analyze their genetic characteristics.Methods Adopting peripheral blood lymphocyte culture technology to analyze the chromosome karyotype of 7 patients in a family,and the genomic copy number variation sequencing(CNV-seq)was performed on the abortion villi of the proband.Results In this family,it was found that there were 3 patients with t(1;3)balanced translocation in two generations,CNV-seq detection of abortion villi in the proband showed that a 9.38 Mb region was deleted at q43-q44 in chromosome 1,and a 43.42 Mb region was duplicated at q25.2-q29 in chromosome 3.Conclusion Balanced chromosomal translocations are an important cause of adverse pregnancy outcomes such as miscarriage and stillbirth.The combination of CNV-seq and karyotyping could improve the reliability of diagnosis of chromosomal abnormalities.In addition,balanced translocation from female carriers showed a higher risk of developing chromosomally abnormal embryos than males.

关 键 词：核型分析 平衡易位 拷贝数变异测序 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]