中国西北三省区β地中海贫血的基因突变类型及其分布特点

THE TYPES AND DISTRIBUTIVE FEATURES OF GENE MUTATION ON βTHALASSEMIA IN THREE DISTRICTS IN NORTHWEST CHINA

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。

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).CD17(A→T)/N] double heterozygote were firstly assayed in these districts besides the common types in Chinese,of which,[28(A→G).CD17(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.