中国“丝绸之路”地区血红蛋白病的遗传流行病学特点

CHARACTERISTIC ON GENETIC EPIDEMIOLOGY OF CHINESE SILK ROAD REGION

对“丝绸之路”沿线陕、甘、新等省区的 2 2万余人进行了血红蛋白病调查 ,应用蛋白质一级结构分析技术 ,从 2 71例异常血红蛋白先证者中 ,发现变异体 2 4种 ,以HbDPunjab、HbGTaiPei、HbGCoushatta频率较高 ,呈梯度分布 ,其中HbJTashikuergan和HbTianshui为世界新种异常血红蛋白。采用基因鉴定技术 ,于 85例 β地中海贫血携带者中 ,确定基因突变类型 12种 ,以CD1 7(A→T)频率最高 ,其中 [- 2 8(A→G) .CD1 7(A→T) /N]双重突变杂合子 ,为同一染色体上的双重基因突变 ,极为罕见 ,CD8(-AA)、CDs 8/9(+G)为在中国人中首次发现。根据“丝绸之路”地区异常血红蛋白和地中海贫血的类型特点、地理及民族分布规律 ,本文认为①我国西北部民族主要由中亚高加索人 ,黄河流域汉族人和蒙古高原的古代游牧民族组成。②β地贫CD1 7突变基因可能起源于甘肃的陇原大地 ,随华人迁徙传入东南亚各地。③该地遗传背景复杂 ,突变基因具有高度的异质性 ,存在显著的遗传流行病学特点。

The authors have investigated 220?000 hemoglobinpathy cases in The Silk Road along with Shanxi,Gansu,Xinjiang and other provinces. 271 abnormal hemoglobin carriers was analysed with the protein's first structure analysis technology and 24 kinds of abnomal hemoglobin was discovered, among which HbD Punjab,HbG TaiPei and HbG Coushatta's frequencies were higher,had gradient distribution and HbJ Tashikuergan and Hb Tianshui were the new hemoglobin in the world. 12 kinds of β thalassemia mutations from 85 cases β thalassemia carries was identified with gene type assayed,in which CD 17 (A→T) frequency was the highest and [-28(A→G). CD 17 (A→T)/N] dual mutational heterozygotes was the rare gene mutation in the same chromosome,and CD 8(-AA) was firstly discovered in the Chinese, too. According to the typical characteristics,geography and national distributive regular rule of abnormal hemoglobin and thalassemia in the silk road region we consider that the nations in the northwest of our country are mainly compose of the Caucasus in middle Asia,the Han in Huanghe River valley and the ancient nomadic tribe in Mongolian Highland,that CD 17 mutational gene of β thalassemia which was handed down from generation to the southeast Asia along with Chinese migration was originated from the Longxi in Gansu province of China and that the genetic background is so complicated in the region. The mutational gene is of the high heterogeneity and present at the obvious characteristics of genetic epidemiology.