摘要
目的通过对福建地区地中海贫血筛查中发现的异常血红蛋白Q-Thailand的研究,明确其血液学表型和基因型特征。方法采集来自福建省妇幼保健院门诊的患者外周血标本,通过血红蛋白毛细管电泳/高效液相色谱法和血液学参数分析收集疑似Hb Q-Thailand携带者,应用跨越断裂点聚合酶链反应,反向点杂交聚合酶链反应(polymerse chain reaction-reverse dot blot, PCR-RDB)和DNA测序的方法确诊疑似患者。结果在35例疑似Hb Q-Thailand患者中,共确诊20例Hb Q-Thailand携带者,其中有1例合并βCD41-42杂合突变,1例合并血红蛋白New York(Hb New York)。结论分析福建地区Hb Q-Thailand的血液学表型和基因型特征可为临床遗传咨询提供依据。
Objective To explore the hematological phenotype and genotype of hemoglobin Q-Thailand in Fujian area. Methods Genomic DNA was extracted from peripheral venous blood samples of patients. Suspected samples were screened by hematological parameters analysis and verified with DNA sequencing. Results In 35 patients suspected with Hb Q-Thailand, 20 were confirmed, which included one case compounded with heterozygous βCD41-42 mutation and one compounded with Hb New York. Conclusion Analysis of hematological phenotype and genotype of Hb Q-Thailand can faciliate genetic counseling for patients from Fujian area.
作者
陈灵基
陈梅环
张敏
王燕
黄海龙
李英
徐两蒲
Chen Lingji;Chen Meihuan;Zhang Min;Wang Yan;Huang Hailong;Li Ying;Xu Liangpu(Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第8期761-764,共4页
Chinese Journal of Medical Genetics
基金
福建省卫生计生委科研人才培养项目(2018-1-21)
福建省卫生计生委中青年骨干人才培养资助项目(2013-ZQN-ZD-6).
