[1]戚晓明,吕灼荣,郭西西,等.广州市从化区育龄人群α- 珠蛋白生成障碍性贫血筛查及基因鉴定结果分析[J].现代检验医学杂志,2024,39(02):163-167.[doi:10.3969/j.issn.1671-7414.2024.02.030]
　QI Xiaoming,L? Zhuorong,GUO Xixi,et al.Anyalysis of Screening and Gene Identification of α-Thalassemia in Childbearing Population of Conghua District, Guangzhou City[J].Journal of Modern Laboratory Medicine,2024,39(02):163-167.[doi:10.3969/j.issn.1671-7414.2024.02.030]
点击复制

广州市从化区育龄人群α- 珠蛋白生成障碍性贫血筛查及基因鉴定结果分析()
分享到：

《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年02期
页码:
163-167
栏目:
论著
出版日期:
2024-03-31

文章信息/Info

Title:
Anyalysis of Screening and Gene Identification of α-Thalassemia in Childbearing Population of Conghua District, Guangzhou City
文章编号:
1671-7414（2024）02-163-05
作者:
戚晓明1; 2; 吕灼荣1; 郭西西1; 2; 张坤山1; 2; 钟韵萍1; 2; 陈爱贤1; 2; 余伍忠1; 2
（1. 广州市从化区妇幼保健院检验科，广州 510920；2. 广州金域医学检验集团股份有限公司，广州 510330）
Author(s):
QI Xiaoming1; 2;  L? Zhuorong1;  GUO Xixi1; 2;  ZHANG Kunshan1; 2;  ZHONG Yunping1; 2;  CHEN Aixian1; 2;  YU Wuzhong1; 2
（1.Department of Clinical Laboratory, Conghua District Maternal and Child Health Hospital, Guangzhou 510920, China; 2.Guangzhou Jinyu Medical Laboratory Group Co. Ltd, Guangzhou 510330, China）
关键词:
α- 珠蛋白生成障碍性贫血; 基因类型; 贫血基因携带率
分类号:
R556.61；Q786
DOI:
10.3969/j.issn.1671-7414.2024.02.030
文献标志码:
A
摘要:
目的　了解和分析广州市从化区育龄人群中α- 珠蛋白生成障碍性贫血发病率及基因突变类型。方法　应用血细胞分析和血红蛋白电泳对24 083 例育龄人群血样进行初筛，初筛阳性者采用跨越断裂点聚合酶链反应（GAP-PCR)和PCR 反向点杂交技术检测α- 珠蛋白变异基因，使用PCR 反向点杂交方法检测β- 珠蛋白17 种常见突变基因。结果　经基因鉴定共检出α- 珠蛋白生成障碍性贫血基因异常者2 596 例，异常发生率10.78%。α-β 复合基因突变者170 例，复合发生率0.71%。在突变基因中，包括缺失型2 550 例，占98.23%；非缺失型46 例，占1.77%。共含有14 种基因突变类型，其中血红蛋白H(HbH) 病5 种，以--SEA/-α3.7 为主；轻型4 种，--SEA/αα 基因型达到了68.61%；静止型5 种，占比最高的前两种基因型为-α3.7/αα 和-α4.2/αα。αβ 复合基因突变类型检出23 种，检出率最高的前六种分别为--SEA/βCD41-42，-α3.7/βCD41-42，--SEA/β654，--SEA/-28，-α3.7/β654 和-α3.7/βCD17，占全部复合类型的75.27%。结论　广州市从化区α-珠蛋白生成障碍性贫血基因异常发生率较高，基因突变类型和构成比具有自己的特点，是α- 珠蛋白生成障碍性贫血一个较为特殊的区域。
Abstract:
Objective　To investigate the incidence and the types of gene mutations of α-thalassemia in the child-bearing population of Conghua District, Guangzhou. Methods　Blood samples from 24 083 people of childbearing age were screened by blood cell analysis and hemoglobin electrophoresis, α-globin gene variation was detected by GAP-PCR and PCR reverse dot blot in the positive cases, and 17 common β-globin gene mutations were detected by PCR reverse Dot blot. Results　A total of 2 596 cases of α-thalassemia gene abnormality were detected by gene identification, and the abnormal rate was 10.78%. A sum of 170 cases (0.71%) had a compound mutation of α-β gene. There were 2 550 cases (98.23%) of deletion and 46 cases (1.77%) of non-deletion in the mutant genes. There were 14 types of gene mutation, including 5 types of HbH disease (with --SEA/-α3.7 primarily), 4 mild types (with 68.61% of --SEA/αα genotype), and 5 quiescent types (the top two genotypes were -α3.7/αα and -α4.2/αα). A total of 23 types of αβ complex gene mutation were detected, and the top six types were --SEA/βCD41-42, -α3.7/ βCD41-42, --SEA/β654, --SEA/-28, -α3.7/β654 and-α3.7/βCD17, which accounted for 75.27% of all the complex types. Conclusion　The gene abnormality rate of α-thalassemia in Conghua District of Guangzhou City was high. The gene mutation type and constituent ratio, which have their own characteristics, is a special region of α-thalassemia.

参考文献/References:

[1] 胡双林, 倪林仙, 樊茂, 等. 19 例地中海贫血的基因诊断[J]. 现代检验医学杂志, 2005, 20(6)：74-76. HU Shuanglin, NI Linxian, FAN Mao, et al. Genetic diagnosis of 19 cases of thalassemia[J]. Journal of Modern Laboratory Medicine, 2005, 20(6): 74-76.
[2] 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(8)：1092-1095. JIE Qiuling, LI Qi, SUN Wenye, et al. The prevalence and genetic analysis of thalassemia in 20 450 cases in Hainan[J]. The Journal of Practical Medicine, 2020,36(8): 1092-1095.
[3] 李苗苗, 郑梓琳, 柯君怡, 等. 广州市39 928 对育龄期夫妇地中海贫血基因诊断的筛查情况[J]. 国际遗传学杂志, 2022, 45(5)：341-346. LI Miaomiao, ZHENG Zilin, KE Junyi, et al. Genetic diagnosis and screening of thalassemia in 39 928 couples of childbearing age in Guangzhou[J].International Journal of Genetics, 2022, 45(5): 341-346.
[4] 王梁, 左杨瑾, 林丽, 等. 广西地区人群地中海贫血基因分型[J]. 重庆医学, 2022, 51(3)：491-494. WANG Liang, ZUO Yangjin, LIN Li, et al. Genotyping of thalassemia in Guangxi Population[J]. Chongqing Medicine, 2022, 51(3): 491-494.
[5] 周冰淼, 赵文忠, 李铭臻, 等. 广东地区16 336 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(32)：73-77. ZHOU Bingmiao, ZHAO Wenzhong, LI Mingzhen, et al. Genotyping of 16 336 thalassemia screening positive specimens in Guangdong Province[J]. China Medical Herald, 2016, 13(32): 73-77.
[6] LAI Ketong, HUANG Guifeng, SU Li, et al. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys[J]. Scientific Reports,2017, 7(1): 920.
[7] 庞婉容, 龙驹, 叶学和, 等. 广西北部湾地区人群地中海贫血基因突变分析[J]. 中国优生与遗传杂志,2016, 24(1)：39-42. PANG Wanrong, LONG Ju, YE Xuehe, et al. The analysis on the thalassemia alleles of the Beibu Gulf district in Guangxi[J]. Chinese Journal of Birth Health & Heredity, 2016, 24(1): 39-42.
[8] 胡俊杰, 陈鑫苹, 王洁, 等. 海南黎族中学生地中海贫血流行现状及罕见基因型研究[J]. 广东医学,2018, 39(10)：1471-1477. HU Junjie, CHEN Xinping, WANG Jie, et al. Prevalence status and rare genotypes detection of thalassemia in Hainan Li nationality[J]. Guangdong Medical Journal, 2018, 39(10): 1471-1477.
[9] XU Xiangmin, ZHOU Yaqing, LUO Gaoxing, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening[J]. Journal of Clinical Pathology, 2004, 57(5): 517-522.
[10] 张翠梅, 王莹, 高建慧, 等. 中山市户籍人群中α-地中海贫血的分子流行病学调查[J]. 中国儿童保健杂志, 2010, 18(5)：361-364. ZHANG Cuimei, WANG Ying, GAO Jianhui, et al. Molecular epidemiology survey of α-thalassemia in Zhongshan City[J]. Chinese Journal of Child Health Care, 2010, 18(5): 361-364.
[11] 申芜子, 李哲刚, 潘干华, 等. 广东省佛山市新婚育龄人群α- 地中海贫血的分子流行病学调查[J]. 中国计划生育学杂志, 2010, 18(1): 31-33. SHEN Wuzi, LI Zhegang, PAN Ganhua, et al. Molecular epidemiological study on α-thalassemia among the newlyweds in Foshan City[J]. Chinese Journal of Family Planning, 2010, 18(1): 31-33.
[12] 周玉球, 李莉艳, 肖鸽飞, 等. 珠海市户籍人群中α-地中海贫血的分子流行病学调查[J]. 中华医学遗传学杂志, 2002, 19(4)：358-360. ZHOU Yuqiu, LI Liyan, XIAO Gefei, et al. Survey of molecular epidemiology of α-thalassemia in the population of household registration in Zhuhai City[J].Chinese Journal of Medical Genetics, 2002, 19(4): 358-360.
[13] AHMAD R, SALEEM M, ALOYSIOUS N S, et al. Distribution of alpha thalassaemia gene variants in diverse ethnic populations in Malaysia: data from the institute for medical research[J]. International Journal of Molecular Sciences, 2013, 14(9): 18599-18614.
[14] BALGIR R S. The burden of haemoglobinopaties in India and the challerges ahead[J]. Current Science,2000, 79(11): 1536-1547.
[15] ORIGA R, PAGLIETTI M E, SOLLAINO M C, et al. Complexity of the alpha-globin genotypes identified with thalassaemia screening in Sardinia[J]. Blood Cells,Molecules & Diseases, 2014, 52(1): 46-49.
[16] 何建萍, 吕梦欣, 秦茂华, 等. 应用高通量测序技术对昆明地区人群珠蛋白生成障碍性贫血基因的筛查研究[J]. 现代检验医学杂志, 2022, 37(5)：6-8, 49. HE Jianping, L? Mengxin, QIN Maohua, et al. Study on screening of thalassemia genes by next-generation sequencing in Kunming Area[J]. Journal of Modern Laboratory Medicine, 2022, 37(5): 6-8, 49.
[17] 吴雪梅, 何元虎, 张利军. 四川攀枝花地区人群珠蛋白生成障碍性贫血基因突变类型分析[J]. 现代检验医学杂志, 2021, 36(1)：47-50. WU Xuemei, HE Yuanhu, ZHANG Lijun. Analysis on the genotype of thalassemia in population of Panzhihua Area of Sichuan Province[J]. Journal of Modern Laboratory Medicine, 2021, 36(1): 47-50.
[18] 张艳霞, 杜倩怡, 王继成, 等. 广东地区不同基因型血红蛋白H 病的血液学特征分析[J]. 新医学, 2020,51(12)：939-942. ZHANG Yanxia, DU Qianyi, WANG Jicheng, et al. Analysis of hematological characteristics of hemoglobin H diseases with different genotypes in Guangdong Province[J]. Journal of New Medicine, 2020, 51(12):939-942.
[19] 黄雅莉, 陈萍, 梁成鸿, 等. 广东湛江地区血红蛋白H 病基因突变研究[J]. 广西医科大学学报, 2018,35(6)：799-803. HUANG Yali, CHEN Ping, LIANG Chenghong, et al. The research on genotypes of hemoglobin H disease in Zhanjiang Area[J]. Journal of Guangxi Medical University, 2018, 35(6): 799-803.
[20] 庞艳敏, 王小超, 潘红飞, 等. 广西地区1 110 例血红蛋白H 病患者的基因型、血液学表型和铁过载的临床研究[J]. 右江医学, 2019, 47(5)：336-342. PANG Yanmin, WANG Xiaochao, PAN Hongfei, et al. A clinical study on genotype, hematological phenotype and iron overload of 1 110 patients with hemoglobin H disease in Guangxi[J]. Chinese Youjiang Medical Journal, 2019, 47(5): 336-342.

备注/Memo

备注/Memo:
作者简介：戚晓明（1986-），男，本科，主管技师，研究方向：临床医学检验，E-mail:766635189@qq.com。
通讯作者：余伍忠 (1962-)，男，硕士，教授/ 硕导，研究方向：遗传病诊断，E-mail:yuwz2013@126.com。
更新日期/Last Update: 2024-03-15