桂林地区不孕不育人群α与β地中海贫血基因分型回顾性分析  

A retrospective analysis of α and β thalassemia genotypes among infertility crowd in Guilin area

作　　者：潘子湘 林华[2] 赵静 傅园园 农妍 PAN Zixiang;LIN Hua;ZHAO Jing;FU Yuanyuan;NONG Yan(Clinical Laboratory;Central Laboratory,181th Hospital of PLA,Guilin 541002,China)

机构地区：[1]中国人民解放军第一八一医院检验科,广西桂林541002 [2]中国人民解放军第一八一医院中心实验室,广西桂林541002

出　　处：《国际检验医学杂志》2018年第A01期131-134,共4页International Journal of Laboratory Medicine

摘　　要：目的 回顾分析桂林地区不孕不育人群α和β地中海贫血基因分型现况，了解该人群的α和β地中海贫血基因类型和检出率。 方法 采用Gap-PCR法和PCR探针法对桂林地区18 324例不孕不育患者进行α和β地中海贫血基因分型。 结果 本实验共检出α和β地中海贫血基因携带者2 601例，总携带率为 14.24 %；其中α地中海贫血基因携带者1 891例，携带率为 10.32 %，共17种基因型，以--SEA/αα、-α3.7/αα和-α4.2/αα居多；构成比分别为46.69%、31.15%和11.26%；β地中海贫血基因携带者627例，携带率为3.42%，共10种基因型，以CD41-42、CD17和IVS-2-654基因突变类型最常见，构成比分别为53.43%、24.40%和 10.53 %；α和β复合型地中海贫血92例，检出率为0.50%，共22种基因型，以--SEA/αα复合CD41-42/βN、-α3.7/αα复合CD41-42/βN居多，构成比分别为25.00%、21.74%。 结论 桂林地区的不孕不育患者α和β地中海贫血检出率较高，可为该地区不孕不育人群α和β地中海贫血遗传咨询、植入前遗传诊断和产前诊断提供依据。Objective ： To retrospective analysis the genotyping of α and β thalassaemia among infertility crowd in Guilin area and understand the genotype and detection rate of α and β thalassaemia in this crowd. Methods Gap-PCR and PCR probe methods were used to analyzed the α and β thalassemia genotyping in 18 324 infertile patients in Guilin area. Results： 2 601 cases were detected as α and β thalassemia carriers.The total carrying rate was 14.24%.Among them,1891 cases were α thalassemia carriers.The carrying rate was 10.32% and 17 α thalassemia genotypes were found.The most common genotypes were --SEA/αα,-α3.7/αα and -α4.2/αα,accounting for 46.69%,31.15% and 11.26% respectively.627 cases were β thalassemia carriers.The carrying rate was 3.42% and 10 β thalassemia gene mutation types were found.The most common mutation were CD41-42,CD17 and IVS-2-654,accounting for 53.43%,24.40% and 10.53% respectively.92 β-thalassemia carriers were found with α thalassemia,the carrying rate was 0.50%.22 genotypes were found.The most common genotypes were --SEA/αα composite CD41-42/βN,-α3.7/αα composite CD41-42/βN,accounting for 25.00%,21.74% respectively. Conclusion ： The gene detection rate of α and β thalassemia is rather high in the infertile patients in Guilin area.Investigated results provided basis for genetic counseling,pre-implantation genetic diagnosis and antenatal diagnosis.

关 键 词：地中海贫血 不孕不育 PCR 

分 类 号：R556.61[医药卫生—血液循环系统疾病]