摘要
目的 探讨珠蛋白生成障碍性贫血基因在广西来宾市本地人群的携带率,为来宾市珠蛋白生成障碍性贫血防控工作提供理论依据.方法 采用血细胞检测和血红蛋白电泳联合测定对 2020 年 1 月～2021 年 12 月在广西来宾市四县一市一区妇幼医院门诊就诊的 88 152 例样本进行珠蛋白生成障碍性贫血筛查,采用多重裂口PCR(gap polymerase chain reaction,Gap-PCR)和反向斑点杂交(reverse dot blot,RBD)等技术,对初筛阳性者进行常见型和罕见型基因检测,并对检测结果进行统计学分析.结果 ① 22 553例初筛呈阳性,其中8 327例初筛阳性者接受基因诊断,共检出4 944例珠蛋白生成障碍性贫血基因携带者,推导出该地区育龄人群总携带率为15.19%,其中α-为3 200例(64.73%),β-为 1 424 例(28.80%),αβ复合型为 320 例(6.47%).②α-珠蛋白生成障碍性贫血基因携带者中,常见型为 3 168 例(99.00%),罕见型 32 例(1.00%),共检出 13 种突变基因和 34 种基因型,基因型--SEA/αα排在首位.③β-珠蛋白生成障碍性贫血基因携带者中,常见型为 1 411 例(99.09%),罕见型 13 例(0.91%),共检出 19 种突变基因和 25 种基因型,以CD41-42(-CTTT)最为常见.④αβ复合型携带者中共检出 53 种不同基因型,排在首位的是--SEA/αα βCD41-42M/βN.⑤瑶族与汉族携带率相当,差异无统计学意义(χ2=0.300,P=0.584),壮族与瑶族、壮族与汉族比较,差异具有统计学意义(χ2=23.66,116.98,均P<0.001).⑥象州县携带率最高(20.04%),合山市携带率最低(12.38%).⑦女性携带率(16.56%)高于男性(13.32%),差异有统计学意义(χ2=182.03,P＜0.001).结论 来宾地区珠蛋白生成障碍性贫血变异基因类型复杂,该研究首次调查珠蛋白生成障碍性贫血基因在来宾地区人群中的携带率和基因突变谱,为该地区遗传咨询和产前诊断提供了有价值的基线数据.
Abstract
Objective To explore the carrier rate of thalassemia in Laibin city,Guangxi Province,and provide a theoretical basis for the prevention and control of thalassemia.Methods From January 2020 to December 2021,88 152 patients were screened for thalassemia in the outpatient department of the Women's and Children's Hospital of 4 counties,1 city and 1 district in Laibin by blood cell detection and hemoglobin electrophoresis.The common and rare genes in initially screened positive individuals were detected by gap polymerase chain reaction(Gap-PCR)and reverse dot blot(RBD),and the results were conducted by statistical analysis.Results ① There were 22 553 positive cases in the preliminary screening and 8 327 positive cases received the diagnosis of thalassemia gene.A total of 4 944 thalassemia carriers of thalassemia genes were detected,deducing that the total thalassemia carrier rate in the population of childbearing age in this region was 15.19%,including 3 200 cases of α-thalassemia carriers(64.73%),1 424 cases of β-thalassemia carriers(28.80%),and 320 cases of were carriers α-thalassemia combined with β-thalassemia(6.47%).② There were 3 168 cases of common thalassemia(99.00%)and 32 cases of rare thalassemia(1.00%)among α-thalassemia gene carriers.A total of 13 mutant genes and 34 genotypes were detected,and genotype SEA/αα was the comes first.③ Among the β-thalassemia gene carriers,there were 1 411 cases of(99.09%)common thalassemia and 13 cases(0.91%)of rare thalassemia.A total of 19 mutant genes and 25 genotypes were detected,with CD41-42(-CTTT)being the most common.④ A total of 53 different genotypes were detected in the carriers of α-thalassemia combined with β-thalassemia,and the top genotype was--SEA/αα βCD41-42M/βN.⑤ The carrier rates of Yao and Han nationality were comparable,and the differences were not significant(χ2=0.300,P=0.584).The differences in carrying rates between Zhuang and Yao(χ2=23.66,P＜0.001),and between Zhuang and Han(χ2=116.98,P＜0.001)were significant.⑥ The carrier rate in Xiangzhou County was the highest(20.04%),while the carrier rate in Heshan City was the lowest(12.38%).⑦ The carrier rate of females was higher than that of males,and the difference was significant(χ2=182.03,P＜0.001).Conclusion The variants genotypes of thalassemia in Laibin were complex.This study was the first to investigate the carrier rate and gene mutation spectrum of thalassemia in Laibin Area,which provides valuable baseline data for genetic counseling and prenatal diagnosis.
维普
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