摘要/Abstract
摘要： 目的·探讨珠蛋白生成障碍性贫血常用商品化试剂盒检测异常-α3.7缺失条带样本的罕见变异类型并分析其血液型表型，为临床咨询提供参考。方法·抽取2016年6月—2019年9月于上海交通大学医学院附属瑞金医院就诊的4 238例患者的外周血，行血常规分析。提取全血DNA，采用跨越断裂点聚合酶链反应（gap-polymerase chain reaction，Gap-PCR）和反向斑点杂交法（reverse dot blot，RDB）进行珠蛋白生成障碍性贫血的常见突变基因检测。采用Gap-PCR及Sanger测序法进行罕见型α珠蛋白生成障碍性贫血的基因检测。结果·常规珠蛋白生成障碍性贫血基因检测共检出-α3.7缺失条带109例，其中15例样本出现了异常的-α3.7缺失条带。Gap-PCR及Sanger测序法分析发现，14例为香港型α珠蛋白生成障碍性贫血基因（Hong Kong αα，HKαα），1例为NG_000006.1:g.34569_38382 del 3 812bp罕见缺失，Gap-PCR法异常-α3.7缺失条带的误检率为13.76%。结论·对于存在异常-α3.7缺失条带的患者，需进一步行罕见型α珠蛋白生成障碍性贫血的检测，以提供更准确的基因诊断结果及遗传咨询。
关键词: α珠蛋白生成障碍性贫血, 香港型α珠蛋白基因, 罕见型, 基因变异
Abstract:
Objective · To investigate the rare variant types of abnormal -α3.7 deletion band samples detected by commercial kits commonly used in thalassemia, and analyze their blood type phenotype, so as to provide reference for clinical consultation. Methods · Peripheral blood samples of 4 238 patients from June 2016 to September 2019 in Ruijin Hospital, Shanghai Jiao Tong University School of Medicine were collected for routine blood analysis. DNA was extracted from whole blood, and the common mutation genes of thalassemia were detected by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB). Gap-PCR and Sanger sequencing were used to detect rare mutations of α-thalassemia. Results · A total of 109 cases of -α3.7 deletion band were detected by routine genetic testing for thalassemia, among which 15 cases had abnormal -α3.7 deletion band. Gap-PCR and Sanger sequencing showed that 14 cases were confirmed to contain Hong Kong αα (HKαα) gene and 1 case was NG_000006.1:g.34569_38382 del 3 812 bp rare deletion. The misdiagnosis rate of abnormal -α3.7 deletion bands by routine Gap-PCR test for thalassemia was 13.76%. Conclusion · Patients with abnormal -α3.7 deletion bands should be detected for further confirmation by testing rare type of α-thalassemia, which will help provide more accurate genetic diagnosis results and genetic counseling.
Key words: α-thalassemia, Hong Kong αα gene, rare type, gene variant
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