首页 | 本学科首页   官方微博 | 高级检索  
检索        

中国南方α地中海贫血基因突变型研究
引用本文:段山,李洪义,陈争,陈素琴,毕雄杰,陈路明,杜传书.中国南方α地中海贫血基因突变型研究[J].中国实验血液学杂志,2003,11(1):54-60.
作者姓名:段山  李洪义  陈争  陈素琴  毕雄杰  陈路明  杜传书
作者单位:1. 中山大学中山医学院医学遗传学教研室,广州,510089
2. 广西柳州铁路中心医院检验科
基金项目:卫生部科研基金资助项目 编号 94 1 10 3
摘    要:为了进下完善和建立一套筛查我国α地中海贫血基因突变型的方法,研究我国南方两广地区α地中海贫血突变类型及分布情况,采用Gap-PCR,nested-PCR,PCR-SSCP,4P-ASPCR及序列分析等方法,对356例临床初诊为标准型和静止型α地中海贫血患和78例血红蛋白H(HbH)病患进行基因筛查。结果表明:356例标准型和静止型α地中海贫血患中发现-SEA/αα295人(82.87%),αα/α-α^3.71人(0.28%),αα/α-α^4.2 3人(0.84%)αα/αα^CS3人(0.84%),αα/αα^QS1人(0.28%)和αα/α^Westmeadα2人(0.56%),没有发现-α4.2和-α3.7的纯合子患;78例HbH病患中-SEA/αα^-3.7 29人(37.2%),-SEA/αα^-4.2 20人(25.6%),-SEA/αα^CS 19人(24.3%),-SEAαα^QS 2人(2.6%)。在8例未能确定基因突变类型的HbH患中,2例广西籍HbH患的α2基因第65密码子(第二外显子)有一同义突变CD65(GCC→GCG)。它与HbH病表型究竞竟有无关系,抑或是DNA单核苷酸多态位点(SNPs),有待进一步研究证实。在方法学方面,本研究进一步完善了以PCR为基础的基因诊断方法,建立了一种改进的检出非缺失型点突变的4P-ASPCR方法,能准确、快速地用于诊断我国常见的缺失型和非缺失型α地中海贫血突变基因。结论:我国α地中海贫血的基因背景比较复杂,不同地区点突变类型、频率及其发病机理等仍需进一步研究。本研究对进一步调整我国南方地区α地中海贫血基因诊断和产前基因诊断策略,有效地防止该病患儿的出生具有重要意义。

关 键 词:α地中海贫血  血红蛋白H病  基因诊断  基因突变
文章编号:1009-2137(2003)01-0054-07
修稿时间:2002年8月30日

Study on Gene Mutations of α-Thalassemia in the South of China
DUAN Shan,LI Hong Yi,CHEN Zheng,CHEN Su Qin,BI Xiong Jie,CHEN Lu Ming,DU Chuan Shu.Study on Gene Mutations of α-Thalassemia in the South of China[J].Journal of Experimental Hematology,2003,11(1):54-60.
Authors:DUAN Shan  LI Hong Yi  CHEN Zheng  CHEN Su Qin  BI Xiong Jie  CHEN Lu Ming  DU Chuan Shu
Institution:Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510089, China.
Abstract:There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.
Keywords:
本文献已被 CNKI 维普 万方数据 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号