[1]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(01):47-50.[doi:10.3969/j.issn.1671-7414.2021.01.012]
 WU Xue-mei,HE Yuan-hu,ZHANG Li-jun.Analysis on the Genotype of Thalassemia in Population of Panzhihua Area of Sichuan Province[J].Journal of Modern Laboratory Medicine,2021,36(01):47-50.[doi:10.3969/j.issn.1671-7414.2021.01.012]
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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()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第36卷
期数:
2021年01期
页码:
47-50
栏目:
论 著
出版日期:
2021-02-05

文章信息/Info

Title:
Analysis on the Genotype of Thalassemia in Population of Panzhihua Area of Sichuan Province
文章编号:
1671-7414(2021)01-047-04
作者:
吴雪梅何元虎张利军
(攀枝花市妇幼保健院检验科,四川攀枝花 617000)
Author(s):
WU Xue-mei HE Yuan-hu ZHANG Li-jun
(Department of Laboratory Medicine, Maternal and Children Health Hospital of Panzhihua, Sichuan Panzhihua 617000,China)
关键词:
珠蛋白生成障碍性贫血基因突变攀枝花地区
分类号:
R556.61;Q754
DOI:
10.3969/j.issn.1671-7414.2021.01.012
文献标志码:
A
摘要:
目的 了解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及其分布特征,为产前筛查和产前诊断提供参考依据,降低出生缺陷。方法 选取 2018年 3月~ 2020年 5月来医院就诊的 2 704例疑似珠蛋白生成障碍性贫血样本,采用 PCR结合导流杂交法进行基因确诊。结果 在 2 704例受检者中,共检测出 534例珠蛋白生成障碍性贫血患者(携带率为 19.75%),其中 α -珠蛋白生成障碍性贫血患者 314例(58.80%),β-珠蛋白生成障碍性贫血患者 206例(38.58%),αβ复合型珠蛋白生成障碍性贫血患者 14例(2.62%)。α-珠蛋白生成障碍性贫血检出 -α3.7/-α3.7,-α3.7/αα,-α4.2/αα,--SEA/αα,--SEA/-α3.7,αQSα/αα,α CSα/αα和α WSα/αα共计 8种基因型,以 --SEA/αα基因型( 138例)和 -α3.7/αα基因型( 136例)最多见,分别占 43.95%和 43.31%。β-珠蛋白生成障碍性贫血检出 CD17,-28,-29,CD41-42,CD43,IVS-Ⅱ -654,CD71-72,CAP和βE共计 9种基因型,其中 β E(56例), CD17(54例)和 CD41-42(48例)三种基因型多见,分别占 27.18%,26.21%和 23.30%。结论 四川攀枝花地区人群珠蛋白生成障碍性贫血依次以 --SEA/αα,-α3.7/αα,βE,CD17和 CD41-42 在内的 5种基因型更为多见,构成比具有区域性特征。

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备注/Memo

备注/Memo:
作者简介:吴雪梅(1988-),女,大学本科,医学学士,主管技师,研究方向:产前筛查与产前诊断, E-mail:390940856@qq.com。
更新日期/Last Update: 2021-02-05