一例16q22脆性位点携带者的遗传学分析  

Genetic analysis of an individual with a fragile site at 16q22

作　　者：邵敏杰[1] 王云[1] 田婵[1] 焦利萍[1] 刘平[1] Shao Minjie;Wang Yun;Tian Chan;Jiao Liping;Liu Ping(Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,100191

出　　处：《中华医学遗传学杂志》2021年第4期380-382,共3页Chinese Journal of Medical Genetics

摘　　要：目的细胞遗传学方法诊断1例因不孕不育来诊的16q22脆性位点携带者。方法采集患者外周血样进行染色体核型分析及基因芯片的检测。结果患者染色体核型为嵌合型16q22脆性位点携带者,且脆性位点表现各异,未经叶酸诱导而出现。基因芯片检测结果未见异常。结论16q22存在脆性位点,该位点可未经叶酸诱导而产生,属于罕见型脆性位点。这类人群进行辅助生育技术时其助孕策略的选择有待进一步观察。Objective To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods.Methods Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray(SNP-array)analysis.Results The patient was found to be a mosaicism for a fragile site at 16q22,which has a variable morphology and cannot be induced by folic acid treatment.No abnormality was found by SNP-array analysis.Conclusion A rare fragile site,which can be induced without folic acid treatment,has been identified at 16q22.The strategy of assisted reproduction for such individuals is yet to be explored.

关 键 词：脆性位点 16q22 染色体核型分析 

分 类 号：R596.1[医药卫生—内科学]