摘要
目的了解西双版纳勐海县育龄人群常见的地中海贫血基因突变类型及其血液学特征。方法应用血常规对勐海县育龄人群进行地贫筛查。对筛查结果为阳性的患者进一步采用跨越断裂点聚合酶链反应多重(GAP-PCR)技术和反向斑点杂交(PCR-RDB)技术检测中国人群中常见的α-和β-地中海贫血基因突变类型。结果在3198例受检者中,检出地贫阳性患者148例,筛查阳性率为4.63%(148/3198);筛查阳性率较高的民族依次为傣族(7.66%,132/1723),其次是汉族(1.59%,10/627)。共检出9种α-地中海贫血基因型,其中--SEA(57.39%,66/115)最为常见,其次是-α3.7(29.57%,34/115);β-地中海贫血共检出7种基因型,最为常见的基因型为CD26(G>A),CD17(A>T),CD41-42(-TTCT),其构成比分别为40.00%(22/55),30.91%(17/55)和20.00%(11/55);检出6种α-地中海贫血合并β-地中海贫血。α-地中海贫血以--SEA贫血较为严重,β-地中海贫血以CD17(A>T)贫血较为严重。--SEA较-α3.7型、-α4.2和αCSα型,其MCH均相对较低,CD17(A>T)较CD26(G>A),其MCV及MCH相对较低,差异有统计学意义(P<0.05)。结论西双版纳勐海县有丰富的地中海贫血基因多样性。地贫在傣族和汉族人群中较为常见。加强西双版纳勐海县地中海贫血的筛查和检测,研究制定符合当地情况的有效干预措施,对当地进行地中海贫血防控具有重要意义。
Objective To analyze the gene mutation types of thalassemia gene mutations and relative hematological characteristics in premarital population in Menghai area of Xishuangbanna.Methods All 3198 subjects were screened for thalassemia by routine blood test.For positive screening subjects,GAP-PCR and PCR-RDB were used to identify commonαandβthalassemia.Results Among the patients screened,148 subjects were detected as thalassaemia patients,and the detection rate was 4.63%(148/3198).Most thalassemia carreier were identified in Dai(7.66%,132/1723)and Han(1.59%,10/627).A total of nineα-thalassaemia genotypes were detected.The most common genotypes ofαthalassemia were--SEA(57.39%,66/115)and-α3.7(29.57%,34/115).A total of sevenβ-thalassaemia genotypes were detected.The most common genotypes ofβ-thalassemia were CD26(G>A)(40.00%,22/55),CD17(A>T)(30.91%,17/55)and CD41-42(-TTCT)(20.00%,11/55).Six cases ofα-thalassemia combined withβ-thalassemia were detected.Forα-thalassemia,--SEA showed comparatively low values for haematological indices.Forβ-thalassemia,CD17(A>T)showed comparatively low values for haematological indices.--SEA showed comparatively lower values for MCH than-α3.7,-α4.2 andαCSα,CD17(A>T)is relatively comparatively lower values for MCV and MCH than CD26(G>A),all have significant statistical differences(P<0.05).Conclusions Our data underline the heterogeneity ofα-globin andβ-globin gene mutations in Menghai county of Xishuangbanna.Thalassemia is more prevalent among the Dai and Han ethnic groups.Our study will lay a foundation for screening programmes and clinical management of thalassaemia in Yunnan province.
作者
赵婷婷
胡艳丽
胡滔
黄羽
张杰
ZHAO Ting-ting;HU Yan-li;HU Tao;HUANG Yu;ZHANG Jie(Medical College of Kunming University of Science and Technology,Kunming Yunnan 650500;Party Committee of the Unit Directly Under Kunming Medical University,Kunming Yunnan 650500;The Third People's Hospital,Kunming Yunnan 650011;Maternal and Child Health Hospital of Menghai,Xishuangbanna Yunnan 666200;Dept.of Medical Genetics,Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People's Hospital Affiliated to Kunming University of Science and Technology,Kunming Yunnan 650032,China)
出处
《昆明医科大学学报》
CAS
2020年第7期54-58,共5页
Journal of Kunming Medical University
基金
国家自然科学基金资助项目(81860040,81502377)
云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目[2017FE467(-108)]
云南省第一人民医院内设研究机构项目(2016BS234)
云南省医学学科带头人计划项目(D-2017056)。
关键词
育龄人群
地中海贫血
血常规检查
傣族
Reproductive age population
Thalassemia
Routine blood test
Dai ethni
