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中国西北三省区 地中海贫血的基因突变类型及其分布特点 |
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余伍忠 李厚钧 张宇红 仇东辉 周常文 田瑞君 杨有利
颉元文 张占平 刘洪超 甫彦武 陈荣耀 路西春
【摘要】 目的 总结丝绸之路沿线西北三省区β地中海贫血的基因分析结果，讨论突变类型特点及其分布规律。方法 采用DNA扩增结合等位基因特异的寡核苷酸探针杂交(PCR／ASO)技术。结果 对85例β地中海贫血先证者进行了基因分析，从5个民族中共确定12种基因突变型，除中国人常见的类型外，还首次从该地区检出了CD8(-AA)、CDs8-9(+G)、CDs27-28(+C)杂合子和［-28(A→G)。CD17(A→T)／N］双重杂合子，其中［-28(A→G)、CD17(A→T)／N］为同一染色体上的双重基因突变，极为罕见。 结论 丝绸之路地区β地中海贫血的基因突变类型有明显的地区差异和显著的民族特点，是我国一个较为特殊的地贫分布区域。
【关键词】 β地中海贫血 聚合酶链反应 寡核苷酸探针杂交 基因分析
THE TYPES AND DISTRIBUTIVE FEATURES OF GENE MUTATION ON β-THALASSEMIA IN THREE DISTRICTS IN NORTHWEST CHINA Yu Wuzhong*,Li Houjun,Zhang Yuhong,Chou Donghui,Zhou Changwen,Tian Ruijun,Yang Youli,Xie Yuanwen,Zhang Zhanping,Liu Hongchao,Fu Yanwu,Chen Rongyao,Lu Xichun.* Research Institute of Clinical Medicine,Urumqi General Hospital of Lanzhou Command PLA,Urumqi, 830000 P.R.China
【Abstract】 Objective To sum up the results of gene analyses on β-Thalassemia in three districts in northwest China and discuss the types and distributive features of the mutation. Methods Polymerase chain reaction in combination with dot-blot hybridization of allele-specific oligonucleutide probes(PCR-ASO). Results In the gene analysis carried out in 85 probands with β-Thalassemia,twelve types of gene mutation were identified from five nationalities.CD8 (-AA)，CDs8-9(+G)，CDs27-28(+C) heterozygote and ［-28(A→G).CD17(A→T)／N］ double heterozygote were firstly assayed in these districts besides the common types in Chinese,of which,［-28(A→G).CD17(A→T)／N］ as double gene mutation in the same chromosome is rare. Conclusion There are significant differences in the distribution and nationality features of gene mutation types for β-Thalassemia in the three districts,so the three districts as a whole is an area with special distributive features of the disease.
【Key words】 β-Thalassemia Polymerase chain reaction Oligonucleotide probe hybridizationGen[1] [2] [3] 下一页
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