[1]吴文钦,熊戌霞,蔡梦珊.深圳市龙华区地中海贫血基因分型情况分析[J].医学信息,2021,34(14):142-144.[doi:10.3969/j.issn.1006-1959.2021.14.039]
　WU Wen-qin,XIONG Xu-xia,CAI Meng-shan.Analysis on the Genotyping of Thalassemia in Longhua District,Shenzhen[J].Medical Information,2021,34(14):142-144.[doi:10.3969/j.issn.1006-1959.2021.14.039]
点击复制

深圳市龙华区地中海贫血基因分型情况分析()
分享到：

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
34卷
期数:
2021年14期
页码:
142-144
栏目:
调查分析
出版日期:
2021-07-15

文章信息/Info

Title:
Analysis on the Genotyping of Thalassemia in Longhua District,Shenzhen
文章编号:
1006-1959（2021）14-0142-03
作者:
吴文钦; 熊戌霞; 蔡梦珊
（中山大学孙逸仙纪念医院检验科，广东 广州 510000）
Author(s):
WU Wen-qin; XIONG Xu-xia; CAI Meng-shan
(Department of Laboratory Medicine,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510000,Guangdong,China)
关键词:
地中海贫血; 基因分型; 基因诊断; 基因突变
Keywords:
Thalassemia; Genotyping; Genetic diagnosis; Gene mutation
分类号:
R446.11
DOI:
10.3969/j.issn.1006-1959.2021.14.039
文献标志码:
A
摘要:
目的 了解深圳市龙华区地中海贫血基因突变类型及分布状况，为该地区优生优育提供参考和指导。方法 收集2017年1月~2019年12月到深圳市龙华区人民医院进行地中海贫血筛查人群12898例，通过检测血常规，对红细胞平均体积（MCV）＜80 fl和/或红细胞平均血红蛋白含量（MCH）＜27 pg的标本通过血红蛋白电泳进行地中海贫血的初筛，初筛表型阳性者则进一步行地中海贫血基因诊断，分析基因诊断结果。结果 12,898例地中海贫血初筛阳性受检者3126例，阳性率为24.23%；基因诊断为地中海贫血905例，检出率为7.02%；α-地中海贫血547例，检出率为4.24%，常见缺失类型基因型为--SEA/αα、-α3.7/αα、-α4.2/αα、分别占64.53%、20.48%、8.23%，--SEA/αα基因阳性率高于其它基因突变型，不同基因缺失型构成比较，差异有统计学意义（P＜0.05）；β地中海贫血基因突变324例，检出率为2.51%，共检出13种基因型，均为杂合子，其常见突变类型基因型为CD41-42、IVS-Ⅱ-654、-28，分别占35.49%、24.69%、15.12%，CD41-42基因突变检出率高于其它基因突变型，不同基因突变类型检出率比较，差异有统计学意义（P＜0.05）；α、β复合型地中海贫血34例。结论 深圳市龙华区地中海贫血有一定的发病率，基因突变类型十分复杂，东南亚缺失型（--SEA/αα）是α-地中海贫血基因型中最为常见，而β-地中海贫血中，以CD41-42突变和IVS-Ⅱ-654突变最为常见，该地区α、β地中海贫基因型构成排序基本符合广东省地中海贫血基因分布特点，应对该地区育龄人群开展地中海贫血相关知识宣传、加强孕前筛查以及产前诊断，促进优生优育。
Abstract:
Objective To understand the types and distribution of thalassemia gene mutations in Longhua District, Shenzhen, and provide reference and guidance for prenatal and postnatal care in this area.Methods A total of 12,898 patients who went to Shenzhen Longhua District People’s Hospital for thalassemia screening from January 2017 to December 2019 were collected.Through blood routine testing, the specimens with mean red blood cell volume (MCV) <80 fl and/or mean red blood cell hemoglobin content (MCH) <27 pg were screened for thalassemia by hemoglobin electrophoresis.Those with a positive phenotype in the initial screening will be further diagnosed with thalassemia and the results of the genetic diagnosis will be analyzed.Results 12,898 cases of thalassemia were screened positive for 3126 cases, the positive rate was 24.23%;905 cases of thalassemia were genetically diagnosed, and the detection rate was 7.02%;There were 547 cases of α-thalassemia, the detection rate was 4.24%, and the common deletion genotypes were --SEA/αα, -α3.7/αα, -α4.2/αα, which accounted for 64.53%, 20.48%, and 8.23%, respectively,--SEA/αα gene positive rate was higher than that of other gene mutation types, and the difference in composition of different gene deletion types was statistically significant (P<0.05);There were 324 cases of β-thalassemia gene mutations, with a detection rate of 2.51%. A total of 13 genotypes were detected, all of which were heterozygous.The common mutation types were CD41-42, IVS-Ⅱ-654, -28, which accounted for 35.49%, 24.69%, and 15.12% respectively. The detection rate of CD41-42 gene mutation was higher than that of other gene mutation types and different gene mutation types. Compared with the detection rate, the difference was statistically significant (P＜0.05);There were 34 cases of α and β complex thalassemia.Conclusion There is a certain incidence of thalassemia in Longhua District, Shenzhen, and the types of gene mutations are very complicated. The Southeast Asian deletion type (--SEA/αα) is the most common α-thalassemia genotype.Among β-thalassemias, CD41-42 mutations and IVS-Ⅱ-654 mutations are the most common. The order of α and β-thalassemia genotypes in this area is basically in line with the characteristics of thalassemia gene distribution in Guangdong Province.The population of childbearing age in this area should carry out the promotion of thalassemia-related knowledge, strengthen pre-pregnancy screening and prenatal diagnosis, and promote prenatal and postnatal care.

参考文献/References:

[1]徐珊珊,李铭臻,周冰,等.广东省育龄夫妇地中海贫血的基因型分析[J].山西医药杂志,2020,49(23):3195-3197. [2]Pang W,Long J,Weng X,et al.Identification of Three Types of α-Thalassemia Deletion,-α21.9,-α2.4,and--THAI,and Their Frequencies,in One Family in the Population of Southern Guangxi Zhuang Autonomous Region,People’s Republic of China[J].Hemoglobin,2018,42(1):37-42. [3]李聪.血红蛋白电泳联合地中海贫血基因检测在地中海贫血早期诊断中的应用价值及准确性分析[J].中国社区医师,2021,37(1):95-96. [4]彭杨.地中海贫血基因诊断指导优生优育的价值研究[J].中国医药科学,2018,8(23):218-220. [5]张文新,于婷,孙楠,等.地中海贫血基因检测试剂盒抽验质量分析[J].分子诊断与治疗杂志,2020,12(3):279-282,304. [6]杨发达,高维鸿,梁丽笙,等.佛山市9236例孕产妇301型地中海贫血基因检测结果分析[J].分子诊断与治疗杂志,2020,12(9):1147-1151.

相似文献/References:

[1]吕丽娜,杨灿华.地中海贫血的诊疗现状及分子生物学研究[J].医学信息,2022,35(11):33.[doi:10.3969/j.issn.1006-1959.2022.11.010]
　LYU Li-na,YANG Can-hua.Diagnosis and Treatment Status of Thalassemia and Molecular Biology Research[J].Medical Information,2022,35(14):33.[doi:10.3969/j.issn.1006-1959.2022.11.010]
[2]莫宗平,刘 巧,蒋佳利.安岳地区女性高危型HPV基因分型结果分析[J].医学信息,2018,31(18):101.[doi:10.3969/j.issn.1006-1959.2018.18.031]
　MO Zong-ping,LIU Qiao,JIANG Jia-li.Analysis of the Results of High-risk HPV Genotyping in Women in Anyue Area[J].Medical Information,2018,31(14):101.[doi:10.3969/j.issn.1006-1959.2018.18.031]
[3]罗丹丹,汤文杰,祁文瑾.白假丝酵母菌基因分型技术的研究[J].医学信息,2019,32(13):25.[doi:10.3969/j.issn.1006-1959.2019.13.009]
　LUO Dan-dan,TANG Wen-jie,QI Wen-jin.Research on Genotyping Technology of Candida Albicans[J].Medical Information,2019,32(14):25.[doi:10.3969/j.issn.1006-1959.2019.13.009]
[4]汪全民,万 琳.血清学方法结合基因分型技术鉴定献血者ABO疑难血型[J].医学信息,2021,34(21):72.[doi:10.3969/j.issn.1006-1959.2021.21.018]
　WANG Quan-min,WAN Lin.Identification of ABO Difficult Blood Groups of Blood Donors by Serological Method Combined with Genotyping Technique[J].Medical Information,2021,34(14):72.[doi:10.3969/j.issn.1006-1959.2021.21.018]
[5]许生样.杭州地区男性人乳头瘤病毒感染特征分析[J].医学信息,2020,33(05):137.[doi:10.3969/j.issn.1006-1959.2020.05.043]
　XU Sheng-yang.Characteristics of Human Papillomavirus Infection in Male in Hangzhou[J].Medical Information,2020,33(14):137.[doi:10.3969/j.issn.1006-1959.2020.05.043]
[6]刘 洋,吴佳南.MCV与MCH联合检测鉴别诊断地中海贫血与缺铁性贫血的价值[J].医学信息,2020,33(13):169.[doi:10.3969/j.issn.1006-1959.2020.13.053]
　LIU Yang,WU Jia-nan.The Value of Combined Detection of MCV and MCH in the Differential Diagnosis of Thalassemia and Iron Deficiency Anemia[J].Medical Information,2020,33(14):169.[doi:10.3969/j.issn.1006-1959.2020.13.053]
[7]顾国民,朱晓丹,朱红革,等.二代测序技术检测新疆地区NSCLC患者基因类型及临床意义[J].医学信息,2020,33(15):85.[doi:10.3969/j.issn.1006-1959.2020.15.026]
　GU Guo-min,ZHU Xiao-dan,ZHU Hong-ge,et al.Detection of Gene Types and Clinical Significance of NSCLC Patients in Xinjiangby Next-generation Sequencing Technology[J].Medical Information,2020,33(14):85.[doi:10.3969/j.issn.1006-1959.2020.15.026]
[8]吴智明,曹晓强,林 翀,等.海南省文昌、定安、东方、乐东四市县居民对地中海贫血相关知识知晓度的分析[J].医学信息,2021,34(11):133.[doi:10.3969/j.issn.1006-1959.2021.11.037]
　WU Zhi-ming,CAO Xiao-qiang,LIN Chong,et al.Analysis of the Awareness of Thalassemia-related Knowledge Among Residents in Wenchang,Ding’an,Dongfang,and Ledong Cities and Counties in Hainan Province[J].Medical Information,2021,34(14):133.[doi:10.3969/j.issn.1006-1959.2021.11.037]
[9]欧阳莉,赖章辉,李 峰.血液检验诊断和鉴别缺铁性贫血及地中海贫血的意义研究[J].医学信息,2023,36(09):139.[doi:10.3969/j.issn.1006-1959.2023.09.029]
　OUYANG Li,LAI Zhang-hui,LI Feng.The Significance of Blood Test in the Differential Diagnosis of Iron Deficiency Anemia and Thalassemia[J].Medical Information,2023,36(14):139.[doi:10.3969/j.issn.1006-1959.2023.09.029]

更新日期/Last Update: 1900-01-01