[1]黄媛媛,叶丽花,黄 俊,等.广西来宾市育龄人群珠蛋白生成障碍性贫血基因检测结果分析[J].现代检验医学杂志,2024,39(02):96-102.[doi:10.3969/j.issn.1671-7414.2024.02.018]
　HUANG Yuanyuan,YE Lihua,HUANG Jun,et al.Analysis of Gene Testing Results for Thalassemia in Childbearing-Age Population of Laibin City, Guangxi[J].Journal of Modern Laboratory Medicine,2024,39(02):96-102.[doi:10.3969/j.issn.1671-7414.2024.02.018]
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广西来宾市育龄人群珠蛋白生成障碍性贫血基因检测结果分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年02期
页码:
96-102
栏目:
论著
出版日期:
2024-03-15

文章信息/Info

Title:
Analysis of Gene Testing Results for Thalassemia in Childbearing-Age Population of Laibin City, Guangxi
文章编号:
1671-7414（2024）02-096-07
作者:
黄媛媛1; 叶丽花2; 黄 俊2; 蒋爱琼2; 梁乔慧2; 沈雪莲2; 李友琼3
（1. 柳州市妇幼保健院医学遗传科，广西柳州 545001；2. 来宾市妇幼保健院检验科，广西来宾 546100；3. 广西壮族自治区人民医院医学遗传与产前诊断中心，南宁 530021）
Author(s):
HUANG Yuanyuan1;  YE Lihua2;  HUANG Jun2;  JIANG Aiqiong2; LIANG Qiaohui2;  SHEN Xuelian2;  LI Youqiong3
(1. Department of Medical Genetics，Liuzhou Maternal and Children Healthcare Hospital，Guangxi Liuzhou 545001， China；2. Department of Clinical Laboratory，Laibin Maternal and Child Health Hospital，Guangxi Laibin 546100， China；3.Center for Medical Genetics and Prenatal Diagnosis，the People’s Hospital of Guangxi Zhuang Autonomous Region，Nanning 530021, China)
关键词:
珠蛋白生成障碍性贫血; 基因型; 基因携带率
分类号:
R556.61；Q786
DOI:
10.3969/j.issn.1671-7414.2024.02.018
文献标志码:
A
摘要:
目的 探讨珠蛋白生成障碍性贫血基因在广西来宾市本地人群的携带率，为来宾市珠蛋白生成障碍性贫血防控工作提供理论依据。方法 采用血细胞检测和血红蛋白电泳联合测定对2020 年1 月~2021 年12 月在广西来宾市四县一市一区妇幼医院门诊就诊的88 152 例样本进行珠蛋白生成障碍性贫血筛查，采用多重裂口PCR（gap polymerasechain reaction，Gap-PCR）和反向斑点杂交（reverse dot blot，RBD）等技术，对初筛阳性者进行常见型和罕见型基因检测，并对检测结果进行统计学分析。结果 ① 22 553 例初筛呈阳性，其中8 327 例初筛阳性者接受基因诊断，共检出4944 例珠蛋白生成障碍性贫血基因携带者，推导出该地区育龄人群总携带率为15.19%，其中α- 为3 200 例（64.73％），β- 为1 424 例（28.80％），αβ 复合型为320 例（6.47％）。② α- 珠蛋白生成障碍性贫血基因携带者中，常见型为3 168 例（99.00%），罕见型32 例（1.00％），共检出13 种突变基因和34 种基因型，基因型--SEA/αα 排在首位。③ β- 珠蛋白生成障碍性贫血基因携带者中，常见型为1 411 例（99.09%），罕见型13 例（0.91％），共检出19 种突变基因和25 种基因型，以CD41-42（-CTTT）最为常见。④ αβ 复合型携带者中共检出53 种不同基因型，排在首位的是--SEA/αα βCD41-42M/βN。⑤瑶族与汉族携带率相当，差异无统计学意义（χ2=0.300，P=0.584），壮族与瑶族、壮族与汉族比较，差异具有统计学意义（χ2=23.66，116.98，均P<0.001）。⑥象州县携带率最高（20.04%），合山市携带率最低（12.38%）。⑦女性携带率（16.56%）高于男性（13.32%），差异有统计学意义（χ2=182.03，P ＜ 0.001）。结论 来宾地区珠蛋白生成障碍性贫血变异基因类型复杂，该研究首次调查珠蛋白生成障碍性贫血基因在来宾地区人群中的携带率和基因突变谱，为该地区遗传咨询和产前诊断提供了有价值的基线数据。
Abstract:
Objective To explore the carrier rate of thalassemia in Laibin city, Guangxi Province, and provide a theoretical basis for the prevention and control of thalassemia. Methods From January 2020 to December 2021, 88 152 patients were screened for thalassemia in the outpatient department of the Women’s and Children’s Hospital of 4 counties, 1 city and 1 district in Laibin by blood cell detection and hemoglobin electrophoresis. The common and rare genes in initially screened positive individuals were detected by gap polymerase chain reaction (Gap-PCR) and reverse dot blot (RBD), and the results were conducted by statistical analysis. Results ① There were 22 553 positive cases in the preliminary screening and 8 327 positive cases received the diagnosis of thalassemia gene. A total of 4 944 thalassemia carriers of thalassemia genes were detected, deducing that the total thalassemia carrier rate in the population of childbearing age in this region was 15.19%, including 3 200 cases of α-thalassemia carriers (64.73%), 1 424 cases of β-thalassemia carriers (28.80%), and 320 cases of were carriers α-thalassemia combined with β-thalassemia (6.47%). ② There were 3 168 cases of common thalassemia (99.00%) and 32 cases of rare thalassemia (1.00%) among α-thalassemia gene carriers. A total of 13 mutant genes and 34 genotypes were detected, and genotype SEA/αα was the comes first. ③ Among the β-thalassemia gene carriers, there were 1 411 cases of (99.09%) common thalassemia and 13 cases(0.91%) of rare thalassemia. A total of 19 mutant genes and 25 genotypes were detected, with CD41-42 (-CTTT) being the most common. ④ A total of 53 different genotypes were detected in the carriers of α-thalassemia combined with β-thalassemia, and the top genotype was --SEA/αα βCD41-42M/βN. ⑤ The carrier rates of Yao and Han nationality were comparable, and the differences were not significant (χ2=0.300, P=0.584). The differences in carrying rates between Zhuang and Yao (χ2=23.66, P ＜ 0.001), and between Zhuang and Han (χ2=116.98, P ＜ 0.001) were significant. ⑥ The carrier rate in Xiangzhou County was the highest (20.04%), while the carrier rate in Heshan City was the lowest (12.38%). ⑦ The carrier rate of females was higher than that of males, and the difference was significant (χ2=182.03, P ＜ 0.001). Conclusion The variants genotypes of thalassemia in Laibin were complex. This study was the first to investigate the carrier rate and gene mutation spectrum of thalassemia in Laibin Area, which provides valuable baseline data for genetic counseling and prenatal diagnosis.

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备注/Memo

备注/Memo:
基金项目： 广西壮族自治区来宾市科技计划项目资助( 来科转202417）：来宾市辖区各民族育龄人群地中海贫血基因谱的创立；（来科转220831）：来宾地区血红蛋白A2 筛查地中海贫血截断值的探讨。
作者简介： 黄媛媛（1987-），女，本科，主管技师，研究方向：临床基础检验、珠蛋白生成障碍性贫血基因诊断，E -mail：445179382@qq.com。
叶丽花（1983-），女，本科，副主任技师，研究方向：临床基础检验、珠蛋白生成障碍性贫血基因诊断，E-mail：181988895@qq.com。同为第一作者。
通讯作者： 李友琼（1979-），男，医学硕士，副主任技师，研究方向：血红蛋白病的筛查与诊断、产前筛查与产前诊断、临床分子生物学诊断，E-mail：liyouqiong327@163.com。
更新日期/Last Update: 2024-03-15