β珠蛋白基因3′UTR+101G>C(HBB:c.*233G>C)变异的遗传学效应分析  

Genetic Effect Analysis of β-globin Gene 3′UTR+101G>C(HBB:c.233G>C) Variant

作　　者：杜丽[1] 姚翠泽 包秀琴 梁杰 袁腾龙 秦丹卿[1] 王继成[1] DU Li;YAO Cui-Ze;BAO Xiu-Qin;LIANG Jie;YUAN Teng-Long;QIN Dan-Qing;WANG Ji-Cheng(Medical Genetics Center,Key Laboratory of Metabolic and Genetic Disease in Women and Children,Guangdong Women and Children Hospital,Guangdong Birth Defect Prevention and Management Center,Guangzhou 511442,Guangdong Province,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广东省出生缺陷防治管理中心,广东广州511442

出　　处：《中国实验血液学杂志》2021年第4期1271-1274,共4页Journal of Experimental Hematology

摘　　要：目的:探讨β珠蛋白基因3′UTR+101G>C(HBB:c.*233G>C)变异是否具有遗传学效应,为地中海贫血的基因诊断和遗传咨询提供依据。方法:应用全血细胞分析和毛细管电泳进行血液学指标分析,采用PCR-流式荧光杂交法检测中国南方人群常见的23种地中海贫血相关突变,采用一代测序方法检测β珠蛋白基因(HBB)的其他变异位点。结果:在463个进行HBB基因测序的病例中共检测到7个病例携带HBB:c.*233G>C变异,其中4例同时携带HBB基因其他致病性变异(2例反式排列,2例顺式排列),均为典型的轻型β地中海贫血的血液学特征,3例同时携带异常血红蛋白变异,均不具有β地中海贫血的血液学特征。结论:本研究的数据显示HBB:c.*233G>C变异无明显遗传学效应,应为多态性位点。Objective: To investigate whether β-globin gene 3′UTR+101 G>C(HBB:c.*233 G>C) variant has genetic effect and provide basis for gene diagnosis and genetic counseling. Method: Whole blood cell analysis and capillary zone electrophoresis(CZE) were used to analyze the hematological indexes. The most frequent 23 mutations in southern Chinese individuals were routinely measured by PCR-flow fluorenscence immunmicrobeads assay. Sanger sequencing was used to detect the other variants of β-globin gene(HBB). Results: In 463 cases, a total of 7 cases with HBB:c.*233 G>C variant were detected, among them 4 cases carried other pathogenic variants of HBB gene(2 cases were in trans, 2 cases were in cis), who had typical hematological characteristics of mild β-thalassemia, and 3 cases also carried abnormal hemoglobin variation, but did not have hematological characteristics of β-thalassemia. Conclusion:The study shows that HBB:c.*233 G > C variant has no obvious genetic effect and should be a benign polymorphism.

关 键 词：β珠蛋白基因 3′UTR+101G>C HBB:c.*233G>C 

分 类 号：R556[医药卫生—血液循环系统疾病] R394[医药卫生—内科学]