云南省德宏州傣族育龄人群地中海贫血流行病学调查

doi:10.16352/j.issn.1001-6325.2022.10.1504

基础医学与临床 ›› 2022, Vol. 42 ›› Issue (10): 1504-1508.doi: 10.16352/j.issn.1001-6325.2022.10.1504

云南省德宏州傣族育龄人群地中海贫血流行病学调查

滕聪聪¹, 徐咏梅², 唐树萍³, 李勇⁴, 杨阳⁵, 龙岚¹, 张杰^5*

1.昆明理工大学医学院附属医院医学遗传科,云南昆明 650031;
德宏州妇幼保健院 2.检验科; 3.妇产科; 4.公共卫生管理科, 云南德宏 678400;
5.云南省第一人民医院医学遗传科,云南昆明 650032

收稿日期:2021-09-14 修回日期:2022-01-07 出版日期:2022-10-05 发布日期:2022-09-23
通讯作者: * kmzhjie@aliyun.com
基金资助:
国家自然科学基金(81860040)

Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province

TENG Cong-cong¹, XU Yong-mei², TANG Shu-ping³, LI Yong⁴, YANG Yang⁵, LONG Lan¹, ZHANG Jie^5*

1. Department of Medical Genetics,the Affiliated Hospital of Medical School,Kunming University of Science and Technology, Kunming 650031;
2. Department of Laboratory Medicine; 3. Department of Obstetrics and Gynecology; 4. Department of Public Health Management,Dehong Maternity and Child Health Hospital,Dehong 678400;
5. Department of Medical Genetics, the First People's Hospital of Yunnan Province,Kunming 650032, China

Received:2021-09-14 Revised:2022-01-07 Online:2022-10-05 Published:2022-09-23
Contact: * kmzhjie@aliyun.com

摘要/Abstract

摘要： 目的了解云南省德宏地区傣族育龄人群地中海贫血(地贫)的基因携带率、基因突变类型及其血液学特征。方法应用二代测序技术对德宏地区傣族育龄人群进行地贫基因检测,采用血红蛋白电泳和血常规检测血液学特征,对血液学特征进行统计,分析血常规筛查的敏感性及特异性。结果在591例受检者中检出地中海贫血携带者289例,其中α-地贫基因突变携带率为39.09%(231/591),β-地贫基因突变携带率为15.06%(89/591)。研究共检出5种α-地贫基因突变类型和7种β-地贫基因突变类型。α-地贫突变基因型中,--^SEA的平均红细胞体积(MCV)和平均血红蛋白含量(MCH)偏低,基因型α^CSα的Hb A₂偏低(P＜0.05)。β-地贫突变基因型中,CD 26(G＞A)的MCH偏高,Hb A偏低(P＜0.05)。在血常规筛查地贫中,当MCV的截断值为83.55 fL时,具有最大约登指数;当MCH的截断值为27.95 pg时,具有最大约登指数。结论德宏傣族育龄人群地贫突变基因携带率较高,基因突变以－α^3.7和CD 26(G＞A)较为常见。

关键词: 地中海贫血, 傣族, 基因突变, 血液学特征, 流行病学调查

Abstract: Objective To investigate the gene carrying rate,gene mutation type and hematological characteristics of thalassemia in Dai nationality population of Dehong Prefecture, Yunnan Province. Methods A total of 591 Dai nationality gestational age population in Dehong were tested for thalassemia gene by next-generation sequencing technology. The sensitivity and specificity of the hemoglobin electrophoresis and blood routine tests were performed. Results A total of 289 cases (48.90%) were positive for thalassemia gene. Among them,231 cases were classified as α-thalassemia(39.09%) and 89 cases were β-thalassemia(15.06%). Five α-thalassemia genotypes and seven β-thalassemia genotypes were detected. For α-thalassemia, --^SEA showed comparatively lower values for MCV and MCH; α^CSα showed comparatively lower values for Hb A2 (P＜0.05). For the β-thalassemia,CD 26 (G＞A)had significantly lower Hb A values,and higher MCH values(P＜0.05). A new cut-off value for the thalassemia with the highest accuracy was proposed(MCV 83.55 fL,MCH 27.95 pg). Conclusions Thalassemia is common in Dai nationality population of Dehong. The most frequently identified types are －α^3.7 and CD 26 (G＞A).

Key words: thalassemia, Dai nationality, gene mutation, hematological characteristics, epidemiological investigation

中图分类号:

R394

滕聪聪, 徐咏梅, 唐树萍, 李勇, 杨阳, 龙岚, 张杰. 云南省德宏州傣族育龄人群地中海贫血流行病学调查[J]. 基础医学与临床, 2022, 42(10): 1504-1508.

TENG Cong-cong, XU Yong-mei, TANG Shu-ping, LI Yong, YANG Yang, LONG Lan, ZHANG Jie. Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province[J]. Basic & Clinical Medicine, 2022, 42(10): 1504-1508.

参考文献 15

[1]	周冰燚,赵文忠,李铭臻,等. 广东地区16336例地中海贫血初筛阳性样本基因型分析[J].中国医药导报,2016,13: 73-77.
[2]	Pan HF,Long GF,Li Q,et al. Current status of thalassemia in minority populations in Guangxi[J].Clin Genet,2007,71: 419-426.
[3]	揭秋玲,李崎,孙文页,等.海南地区地中海贫血筛检者的基因结果分析[J].实用医学杂志,2020,36: 1092-1095.
[4]	Zhang J,Zhu BS,He J,et al. The spectrum of α-and β-thalassemia mutations in Yunnan Province of Southwestern China[J].Hemoglobin,2012,36: 464-473.
[5]	Huang TL,Zhang TY,Song CY,et al. Gene mutationspectrum of thalassemia among children in Yunnan province[J].Front Pediatr,2020,8: 159.doi: 10.3389/fped.2020.00159.
[6]	丁雪梅,曾小红,朱宝生,等. 5450例云南省育龄人群地中海贫血筛查结果分析[J].临床检验杂志,2014,32: 693-696.
[7]	姚莉琴,邹团标,范丽梅,等. 德宏州傣、景颇、德昂、阿昌族0-7岁儿童地中海贫血调查[J].中国优生与遗传杂志,2011,19: 117-118.
[8]	He J,Song WH,Yang JL,et al. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population:the Dai nationality,China[J].Genet Med,2017,19: 1022-1031.
[9]	Zhang J,Yang Y,Li P,et al.Analysis of deletional hereditary persistence of fetal hemoglobin/δ β-thalassemia and δ-globin gene mutations in Southerwestern China[J].Mol Genet Genomic Med,2019,7:e706. doi: 10.1002/mgg3.706.
[10]	贺静,曾小红,徐咏梅,等. 中国云南汉族和傣族育龄人群的地中海贫血基因分析[J].中国实验血液学杂志,2016,24: 50-156.
[11]	He S,Qin Q,Yi S,et al. Prevalence and genetic analysis of α- and β-thalassemia in Baise region,a multiethnic region in southern China[J].Gene,2017,619: 71-75.
[12]	谢美娟,滕聪聪,龙岚,等. 云南省德宏州盈江县傣族育龄人群地中海贫血流行病学调查[J].基础医学与临床,2021,41: 1559-1563.
[13]	徐咏梅,王敏,杨明华,等. 云南省德宏州不同民族孕龄人群地中海贫血的基因检测结果分析[J].热带医学杂志,2019,19: 1070-1073.
[14]	赵婷婷,胡艳丽,胡滔,等. 西双版纳勐海县育龄人群血常规及地中海贫血现状分析[J].昆明医科大学学报,2020,41: 54-58.
[15]	张杰,贺静,曾小红,等. 中国云南省两个边境地区傣族人群β-地中海贫血基因突变谱分析[J].中国实验血液学杂志,2016,24: 157-161.

云南省德宏州傣族育龄人群地中海贫血流行病学调查

Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献 15

相关文章 15

编辑推荐

Metrics

本文评价

[1]	刘婧雯, 宋昊昕, 朱蕾. 稳定表达FIP1L1-PDGFRA及其突变体细胞株的构建和耐药性评价[J]. 基础医学与临床, 2024, 44(1): 63-68.
[2]	贡子琦, 吴晓雯, 郭倩, 郭军, 孔燕. PTEN突变对黏膜黑色素瘤患者临床病理特征及预后的影响[J]. 基础医学与临床, 2023, 43(9): 1341-1345.
[3]	杨宇帆, 王曦, 聂敏, 伍学焱, 茅江峰. 不同FGFR1突变与先天性低促性腺激素性性腺功能减退症的相关性[J]. 基础医学与临床, 2023, 43(5): 733-738.
[4]	邓玲, 龙岚, 杨阳, 靳婵婵, 李苏云, 丰娜, 贺静. HBG基因启动子区rs368698783、rs7482144位点多态性与HbF表达相关[J]. 基础医学与临床, 2023, 43(2): 211-218.
[5]	刘译泽, 镡颖, 朱宝生. 慢病毒载体在β地中海贫血基因治疗中的研究进展[J]. 基础医学与临床, 2023, 43(12): 1876-1880.
[6]	吕雪, 李雪薇, 杨婷, 郑锦秀, 祝子鹤, 杨涛, 徐钧. 食管胃结合部腺癌生物信息学分析及Involucrin基因突变位点筛选[J]. 基础医学与临床, 2022, 42(2): 235-242.
[7]	谢美娟, 滕聪聪, 龙岚, 刘永幸, 陈新超, 张杰. 云南省德宏州盈江县傣族育龄人群地中海贫血流行病学调查[J]. 基础医学与临床, 2021, 41(11): 1559-1563.
[8]	高小燕, 刘述川. 端粒缩短与骨髓衰竭性疾病的研究进展[J]. 基础医学与临床, 2021, 41(1): 116-119.
[9]	史丽芳, 余东林, 刘雪会, 吕湘. β-654地中海贫血小鼠骨髓红系终末分化的阶段特异性转录组特征[J]. 基础医学与临床, 2020, 40(9): 1182-1189.
[10]	谈丹丹, 柴竞艳, 刘建云, 聂红兵, 熊晖, 吴向斌. LMNA突变体HEK293、C2C12模型的构建及其核纤层蛋白A/C亚细胞定位[J]. 基础医学与临床, 2020, 40(4): 483-489.
[11]	王志新, 左庆瑶, 李伟, 陈佳, 邓微. 两例GCK基因突变家系的分子遗传学分析及临床思考[J]. 基础医学与临床, 2020, 40(12): 1640-1644.
[12]	唐永莉张瑞涛. 全外显子组测序在肺癌的发病机制研究和诊治中的临床意义[J]. 基础医学与临床, 2019, 39(2): 272-276.
[13]	于婧王凤琴姚文娟吴冬梅刘大鹏. 甲状腺乳头状癌BRAFV600E基因突变对VEGF和MMP-9表达的影响?[J]. , 2019, 39(11): 1578-1582.
[14]	孙英梅于春冬王彩娟王洪芹李文杰. 新生儿短链酰基辅酶A脱氢酶缺乏症4例临床特征及基因突变分析[J]. , 2019, 39(11): 1574-1577.
[15]	吴晓雯闫君雅代杰孔燕郭军. 中国134例黑色素瘤患者P16INK4a、CDK4和CCND1基因突变及其临床意义[J]. 基础医学与临床, 2018, 38(2): 153-157.