دورية أكاديمية
[Genotype Analysis of Pregnant Women with α- and β- Thalassemia in Fuzhou Area of Fujian Province in China].
| العنوان: | [Genotype Analysis of Pregnant Women with α- and β- Thalassemia in Fuzhou Area of Fujian Province in China]. |
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| المؤلفون: | Lin JF; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China., Zeng ZY; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China., Yang AP; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China., Zheng L; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China., Rui HB; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China., Chen JM; Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China,E-mail: lijingys517@163.com. |
| المصدر: | Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2020 Aug; Vol. 28 (4), pp. 1303-1306. |
| نوع المنشور: | Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Zhongguo shi yan xue za zhi she Country of Publication: China NLM ID: 101084424 Publication Model: Print Cited Medium: Print ISSN: 1009-2137 (Print) Linking ISSN: 10092137 NLM ISO Abbreviation: Zhongguo Shi Yan Xue Ye Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Beijing : Zhongguo shi yan xue za zhi she, |
| مواضيع طبية MeSH: | alpha-Thalassemia* , beta-Thalassemia*, China ; Female ; Genotype ; Humans ; Mutation ; Pregnancy |
| مستخلص: | Objective: To analyze the genotype of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China. Methods: Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization. Results: 412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as β-thalassemia (31.2%); 32 cases were diagnosed as α and β-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were -- SEA /αα, α 3.7 /αα, -α 4.2 /αα and α QS α/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in β- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and β-composite thalassemia, whose major genotypes were -- SEA /αα composited CD41-42/N, -α 3.7 /αα composited CD41-42/N, -- SEA /αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively. Conclusion: The major genotypes of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China are -- SEA /αα, α 3.7 /αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China. |
| فهرسة مساهمة: | Local Abstract: [Publisher, Chinese] 中国福建省福州地区地中海贫血孕妇基因类型分析. [Publisher, Chinese] 研究中国福建省福州地区地中海贫血孕妇基因类型. [Publisher, Chinese] 对孕妇进行血常规检测或血红蛋白电泳检测，阳性者采用跨跃断裂点PCR技术及PCR-反向点杂交法进行α地中海贫血基因检测，采用PCR-反向点杂交法进行β地中海贫血基因检测. [Publisher, Chinese] 645例确诊为地中海贫血孕妇中，412例为α地中海贫血（63.9%）；201例为β地中海贫血（31.2%）；32例α/β复合地中海贫血（4.9%）。α地中海贫血基因检测中共检测出12种基因型，-- SEA /αα最为常见（265例，64.32%），其后依次为α 3.7 /αα 83例（20.14%），-α 4.2 /αα 32例（7.77%），α QS α/αα 8例（1.94%）；β地中海贫血基因检测中共检测出10种基因型，CD41-42/N最为常见（62例，30.84%），其后依次为CD17/N 56例（27.86%），IVS-II-654/N 32例（15.92%），-28/N 21例（10.45%）；α/β复合地中海贫血基因检测中共检测出9种复合基因型，-- SEA /αα复合CD41-42/N最为常见（6例，18.75%），其后依次为-α 3.7 /αα复合CD41-42/N 5例（15.62%），-- SEA /αα复合CD17/N 5例（15.62%）. [Publisher, Chinese] 中国福建省福州地区孕妇α、β地中海贫血基因型主要为-- SEA /αα、α 3.7 /αα、CD41-42/N及CD17/N等。对福建省福州地区孕妇应加强地中海贫血筛查及产前基因诊断. |
| تواريخ الأحداث: | Date Created: 20200818 Date Completed: 20200826 Latest Revision: 20200826 |
| رمز التحديث: | 20240829 |
| DOI: | 10.19746/j.cnki.issn.1009-2137.2020.04.037 |
| PMID: | 32798416 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1009-2137 |
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| DOI: | 10.19746/j.cnki.issn.1009-2137.2020.04.037 |