广西玉林地区3540例14岁以下儿童地中海贫血基因突变类型分析  

Gene mutation types of thalassemia in 3540 children under 14 years old in Yulin, Guangxi

作　　者：李东明[1] 李继慧 何升[1] LI Dong-ming;LI Ji-hui;HE Sheng(Guangxi Maternal and Child Health Care Hospital,Nanning,Guangxi 530003,Chin)

机构地区：[1]广西壮族自治区妇幼保健院,广西南宁530003 [2]广西玉林市妇女儿童医院,广西玉林550000

出　　处：《现代预防医学》2018年第14期2542-2546,2550,共6页Modern Preventive Medicine

基　　金：广西自然科学基金(2013GXNSFAA019247);国家自然科学基金(81260093)

摘　　要：目的了解广西玉林地区14岁以下儿童地中海贫血基因突变分布。方法 2012年1月-2016年12月对5 102例0~14岁疑似地中海贫血患儿采用Gap-PCR、PCR结合反向点杂交进行α、β地中海贫血基因检测。结果检出地中海贫血患儿3 540例(69.38%,3 540/5 102),包括α地中海贫血2 102例(41.20%)、β地中海贫血1 218例(23.87%)和α复合β地中海贫血220例(4.31%);其中重型α地中海贫血10例,β地中海贫血纯合子或双重杂合子154例,包括新生地中海贫血筛查阳性11例、临床表现为重度贫血45例和中、轻度贫血98例。8种α地中海贫血等位基因以--^(SEA)(58.05%)为主,其次为-α3.7(18.44%)、-α4.2(8.81%)、αCSα(6.94%)、αWSα(5.62%)和αQSα(2.06%),共占99.92%,检出罕见突变--Thai(0.04%)和-α2.4(0.04%),28种α地中海贫血基因类型以--^(SEA)/αα(54.62%)为主。13种β地中海贫血等位基因以CD41-42(52.95%)最常见,其次为CD17(13.76%)、-28(12.94%)、IVS-Ⅱ-654(10.24%)、CD71-72(4.52%)和CD26(2.83%),共占97.24%,34种β地中海贫血基因类型以CD4142/N(48.93%)最常见,54种α复合β地中海贫血基因类型以--^(SEA)/αα复合CD41-42/βN(14.55%)最常见。结论广西玉林地区α地中海贫血基因突变以--^(SEA)为主,β地中海贫血基因突变以CD41-42最常见,α复合β地中海贫血比例较高,重型α和β地中海贫血有较高的发生率。Objective To explore the distribution of gene mutation types of thalassemia in children aged blow 14 years in Yulin of Guangxi. Methods A total of 5 102 suspected thalassemia cases aged 0 to 14 years had further underwent α and βthalassemia gene detection by using gap-PCR and RDB-PCR method during January 2012 to December 2016. Results 3540（69.38%, 3540/5102） cases were diagnosed with thalassemia, including 2102（41.20%） cases of α-thalassemia, 1218（23.87%）cases of β-thalassemia and 220（4.31%） cases of α-thalassemia combined with β-thalassemia. 10 cases were severe α-thalassemia, and 154 cases were diagnosed as β-thalassemia homozygous or double heterozygous, including 11 cases with positive screening results, 45 cases with severe anemia and 98 cases with mild or moderate anemia. 8 alpha gene mutations were identified, and the--^（SEA）mutation（58.05%） was most frequent, followed by-α3.7（18.44%）,-α4.2（8.81%）, αCSα（6.94%）,αWSα（5.62%） and αQSα（2.06%）,account for 99.92%. The rare mutations were--THAI（0.04%） and-α2.4（0.04%）. The--^（SEA）/ααwas the most frequent genotype, accounting for 54.62% of 28 types of α-thalassemia genotypes. 13 beta gene mutations were identified, and the CD41-42 mutation（52.95%） was most frequent, followed by CD17（13.76%）,-28（12.94%）, IVS-Ⅱ-654（10.24%）, CD71-72（4.52%） and CD26（2.83%）, accounting for 97.24%. The CD41-42/N was the most frequent genotype,accounting for 48.93% of 34 types of β-thalassemia genotypes. and the most frequent genotype of α-thalassemia combined with β-thalassemia was-SEA/αα combined with CD41-42/βN（14.55%） among 54 types of mutation genotypes. Conclusion In Yulin of Guangxi, the--^（SEA）mutation and CD41-42 mutation was most frequent in α-thalassemia and β-thalassemia respectively. The proportion of α-thalassemia combined with β-thalassemia is high. The incidence rate of severe α-thalassemia and β-thalassemia is also high.

关 键 词：地中海贫血 基因突变 儿童 

分 类 号：R179[医药卫生—妇幼卫生保健]