Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou

科研成果详情

题名	Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou
作者	Mei-Qin Zheng; Ying Wu; Pei-Zhen Li; Bao-Qing Li; Hong-Xiang Ding
发表日期	2008-10-01
发表期刊	Zhongguo shi yan xue ye xue za zhi 影响因子和分区
语种	英语
原始文献类型	Article
摘要	This study was aimed to analyze the hematologic and molecular biologic characteristics of 14 Wenzhou patients with minor beta-thalassemia, to find out the mutation sites responsible for the disease by detecting sequences of PCR products and to analyze the single nucleotide polymorphism. The peripheral blood of patients was collected intravenously and was anticoagulated with EDTA-K(2); then the templates from blood samples were extracted, the related primers were designed for sequencing the products amplified by PCR; finally mutation sites resulting in beta-thalassemia were found through comparison and analysis of sequences. The results indicated that the C-->T heterozygous mutation occurred at the IVS-2 -654 site in 4 cases; the TTCT deficiency appeared at CD41/42 site in 1 case; in 2 sites existed single nucleotide polymorphisms occurring at the 59th site of exon 1 (T/C, CAT/CAC, His) and IVS-2 nt 665 (T/C). It is concluded that single nucleotide polymorphism of minor beta-thalassemia patients born in Wenzhou had specificity, this study found too kinds of gene mutations which are IVS-2 -654 C-->T heterozygous mutation and CD41/CD42 site-TTCT deficiency.
ISSN	1009-2137
卷号	16 期号:5 页码:1096-9.
收录类别	PUBMED ; SCOPUS
URL	查看原文
PubMed ID	18928603
SCOPUSEID	2-s2.0-79960655288
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/63180
专题	检验医学院（生命科学学院、生物学实验教学中心）_医学检验诊断学实验教学中心
作者单位	Department of Laboratorial Examination, Wenzhou Medical College, Wenzhou 325027, Zhejiang Province, China. zmqlylh@126.com
第一作者单位	医学检验诊断学实验教学中心
第一作者的第一单位	医学检验诊断学实验教学中心
推荐引用方式 GB/T 7714	Mei-Qin Zheng,Ying Wu,Pei-Zhen Li,et al. Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou[J]. Zhongguo shi yan xue ye xue za zhi,2008,16(5):1096-9..
APA	Mei-Qin Zheng, Ying Wu, Pei-Zhen Li, Bao-Qing Li, & Hong-Xiang Ding. (2008). Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou. Zhongguo shi yan xue ye xue za zhi, 16(5), 1096-9..
MLA	Mei-Qin Zheng,et al."Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou".Zhongguo shi yan xue ye xue za zhi 16.5(2008):1096-9..