广东清远地区β-地中海贫血基因型特点

发布时间：2018-03-08 23:34

本文选题：清远地区　切入点：β-地中海贫血　出处：《暨南大学学报(自然科学与医学版)》2017年01期 　论文类型：期刊论文

【摘要】：目的:分析广东清远地区地中海贫血高危人群β-地中海贫血基因型分布特点.方法:采用PCR反向斑点膜条杂交技术(PCR-RDB)进行β地中海贫血基因突变检测.结果:5 063例受检标本中,β-地贫基因检出698例(13.79%),其中杂合子696例(99.71%),双重杂合子和纯合子各1例.突变基因类型共有12种,其中突变频率最高的为CD41-42:298例(42.69%),其次依次为IVS-2-654:174例(24.93%)、-28:78例(11.17%、)、CD17:68例(9.74%)、βE:27例(3.89%)、CD43:23例(3.30%)、CD71/72:18例(2.58%)、CD14/15:5例(0.72%)、-29:3例(0.43%)、CD27/28:3例(0.43%)、CAP:2例(0.28%)、Int:1例(0.14%).698例β-地贫中,轻型696例(99.71%)、中间型和重型各1例,中间型和重型临床表现均为重度小细胞低色素贫血.结论:广东清远地区地贫高危人群β-地贫基因突变类型绝大多数为杂合子,最常见类型为CD41-42基因型;临床以轻型为主,极个别重型β-地贫.
[Abstract]:Objective: to analyze the genotype distribution of 尾 -thalassemia in high risk population of thalassemia in Qingyuan, Guangdong Province. Methods: PCR reverse dot blot hybridization technique was used to detect the mutation of 尾 -thalassemia gene. The 尾 -thalassemia gene was detected in 698 cases, including 696 cases of heterozygote, 1 case of double heterozygote and 1 case of homozygote. The highest frequency of mutation was in CD41-42:298 (42.69), followed by IVS-2-654:174 (24.93-2878), 11.1717: 68 (9.7474), 尾 E: 27 (3.8930), CD71- 7222: 18 (2.58 / 722), CD14141515 (0.721515), 0.4343 / 293 (0.4343 / 2873) and 0.4343 / 283 / 0.43CAP2 (0.2828 / 0), 0.2828 / 1 / 698 尾 -poor, 696 / 696 / 799.71 / 799.1 / 0. 799.1 / 799.1 / 0, 1 / 0 / 0, 1 / 0 / 0 / 0, 0. 443 / 283 / 0.43 / 2878 / 0. Conclusion: the mutation type of 尾 -thalassemia gene in high risk population of thalassemia in Qingyuan area of Guangdong Province is heterozygote, the most common type is CD41-42 genotype, and the main clinical type is mild. Very few severe 尾-thalassemia.
【作者单位】：暨南大学血液病研究所;清远市妇幼保健院科教科;
【基金】：广东省2015年“扬帆计划”博士后扶持项目(粤人才办[2016]6号)
【分类号】：R556.61

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