继发不孕女性1例的Fra(16)(q22)脆性位点的遗传学分析  

Genetic analysis of a Fra(16)(q22)fragile site in a female with secondary infertility

作　　者：谢成秀 高崇兰 康涵 刘青松 Xie Chengxiu;Gao Chonglan;Kang Han;Liu Qingsong(Department of Prenatal Diagnosis,Chengdu Women′s and Children′s Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu,Sichuan 610073,China)

机构地区：[1]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院产前诊断科,成都610073

出　　处：《中华医学遗传学杂志》2023年第4期495-499,共5页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例继发不孕女性Fra(16)(q22)(FRA16B)脆性位点的遗传学机制。方法选取2021年10月5日因"继发不孕"就诊于成都市妇女儿童中心医院的1例28岁的携带FRA16B女性患者作为研究对象,采集其外周血样进行染色体G显带核型分析、单核苷酸多态性微阵列检测(SNP-array)、QF-PCR以及荧光原位杂交(FISH)检测。结果患者共发现5种染色体核型,具体为mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71],但其SNP-array、QF-PCR和FISH检测结果均未见明显异常。结论通过遗传学手段发现了1例FRA16B女性患者。上述发现有助于其后续怀孕时的遗传咨询。Objective To explore the genetic basis for a Fra(16)(q22)(FRA16B)fragile site in a female with secondary infertility.Methods The 28-year-old patient was admitted to Chengdu Women′s and Children′s Central Hospital on October 5,2021 due to secondary infertility.Peripheral blood sample was collected for G-banded karyotyping analysis,single nucleotide polymorphism array(SNP-array),quantitative fluorescent polymerase chain reaction(QF-PCR)and fluorescence in situ hybridization(FISH)assays.Results The patient was found to harbor 5 mosaic karyotypes involving chromosome 16 in a total of 126 cells,which yielded a karyotype of mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71].No obvious abnormality was found by SNP-array,QF-PCR and FISH analysis.Conclusion A female patient with FRA16B was identified by genetic testing.Above finding has enabled genetic counseling of this patient.

关 键 词：脆性位点 Fra(16)(q22) 染色体核型分析 

分 类 号：R711.6[医药卫生—妇产科学]