α-地中海贫血融合基因检测的临床应用  

Clinical application ofα-thalassemia fusion gene detection

作　　者：魏云芳 唐健 张若鹏 何建萍[2] WEI Yun-fang;TANG Jian;ZHANG Ruo-peng;HE Jian-ping(Teaching and Research Office of Medical Laboratory Technology,Medical College of Kunming University,Kunming 650200,Yunnan,CHINA;Department of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Health Hospital,Kunming University,Kunming 650000,Yunnan,CHINA;School of Clinical Medicine,Dali University,Dali 671000,Yunnan,CHINA)

机构地区：[1]昆明学院医学院医学检验技术教研室,云南昆明650200 [2]昆明市妇幼保健院昆明学院附属妇幼保健医院医学遗传与产前诊断科,云南昆明650000 [3]大理大学临床医学院,云南大理671000

出　　处：《海南医学》2023年第11期1620-1623,共4页Hainan Medical Journal

基　　金：国家自然科学基金(编号:81860271);云南省“万人计划”名医专硕人才项目(编号:云卫人发[2019]35号);大理市科技计划项目(编号:2021085/2021086);昆明市医学科技学科带头人培养计划项目(编号:2022-SW[带头]-30);云南省第一人民医院临床医学中心开放项目(编号:2022LCZXKF-SZ13);云南省科技厅科技计划项目(编号:202001BA070001-111);昆明市卫生科技人才培养项目“十百千”工程培养计划[编号:2020-SW(后备)-98]。

摘　　要：目的探讨目前分子诊断常规方法在α-地中海贫血融合基因检测中的应用。方法通过缺口PCR(gap-PCR)、PCR-导流杂交法、反向点杂交法等常规临床地中海贫血基因检测试剂盒以及高通量测序技术检测昆明市妇幼保健院2020年1月1日至12月31日婚育体检中心1例α_(2)珠蛋白融合基因样本。结果PCR-导流杂交法在-α^(4.2)突变位点有弱显影;反向点杂交法在-α^(4.2)突变位点有明显显影,gap-PCR法未出现-α^(4.2)缺失型阳性电泳条带,gap-PCR法见融合基因条带;α2珠蛋白基因测序结果显示有7个融合基因突变位点。结论Gap-PCR法可初步检测α-地中海贫血融合基因,高通量测序技术可准确检测α-地中海贫血融合基因突变位置。Objective To study the current routine methods of molecular diagnosis in the detection ofα-thalas-semia fusion gene.Methods Conventional thalassemia gene detection kits such as gap PCR(gap-PCR),PCR and flow-through hybridization,and reverse dot blot hybridization,as well as high-throughput sequencing technology were used to detect a case of α_(2) globin fusion gene in the Physical Examination Center,Kunming Maternal and Child Health Hospital from January 1,2020 to December 31,2020.Results PCR and flow-through hybridization showed weak de-velopment in-α^(4.2) mutation sites,and reverse dot blot hybridization showed strong development.Gap-PCR did not show-α^(4.2) deletion type positive electrophoresis bands,but showed a positive electrophoresis band for fusion gene.The results ofα-globin gene sequencing showed that there were 7 mutation sites.Conclusion Gap-PCR assay can prelimi-nary detectα-thalassemia fusion gene,and high-throughput sequencing technology can accurately show the mutation lo-cation ofα-thalassemia fusion gene.

关 键 词：融合基因 地中海贫血 基因检测 Gap-PCR法 高通量测序技术 

分 类 号：R556[医药卫生—血液循环系统疾病]