陕、甘、新地区β地中海贫血的突变基因分析

MUTATION GENE ANALYSIS OF β THALASSEMIA IN SHANXI,GANSU AND XINJIANG REGIONS

分析了丝绸之路沿线陕、甘、新三省区８５例β地中海贫血（β地贫）患者的基因突变。检出率最高的前４种突变为ＣＤ１７（Ａ→Ｔ）、ＩＶＳ－Ⅱ－６５４（Ｃ→Ｔ）、－２８位（Ａ→Ｇ）和ＣＤｓ４１／４２（－ＴＴＣＴ），占总检出率的７８．７％，是该地区主要的β地贫突变类型。此外还检出了ＣＤ８（－ＡＡ）、〔－２８（Ａ→Ｇ）ＣＤ１７（Ａ→Ｔ）／Ｎ〕、ＣＤｓ８／９（＋Ｇ）、ＣＤｓ２７／２８（＋Ｃ）等共１２种β地贫的基因突变型。其中〔－２８（Ａ→Ｇ）ＣＤ１７（Ａ→Ｔ）／Ｎ〕为同一染色体上的双重基因突变，未见文献报道；ＣＤ８（－ＡＡ）和ＣＤｓ８／９（＋Ｇ）为在中国人中首次发现；ＣＤｓ２７／２８（＋Ｃ）在我国也甚为罕见。研究表明，丝绸之路地区β地贫的类型及频率既与我国其他地区乃至东南亚各国不完全相同，又与邻近的中亚各地有一定差异。

This paper analyses the gene mutation of 85 cases of β thalassemia occurring in the three Provinces of Shanxi, Gansu and Xinjiang along the Silk Road. The foremost four mutants with highest detectable rate were CD17(A→T)、 IVS Ⅱ 654(C→T)、 28(A→T) and CDs 41/42( TTCT), comprising 78.7% of total matants of on β thalassemia in this region. In addition, there were twelve gene mutants of β thalassemia detected, such as CD8 ( AA)、 28(A→G).CD 17 (A→T)/N 、CDs 8/9(+G)、CDs 27/28(+C) efe. Among them 28(A→G).CD17 (A→T)/N were double gene mutation in the same chromosome, which had not been reported in the literature.β thalassemia CD8 ( AA) and CDs 8/9(+G) were first discovered in the Chinese. CDs 27/28(+C) was also rare in China. It has been shown by study that the pattern and incidence of β thalassemia in the Silk Road area were not only different from that of other areas in our country and Southeast Asian countries, but also different from rhat of the neighboring Central Asian countries, and they exhilited a peculiar geographical feacture.