关键词: 血红蛋白病; 异常血红蛋白; 地中海贫血; 丝绸之路

Abstract: The authors have investigated 220 000 hemoglobinpathy cases in The Silk Road along with Shanxi, Gansu, Xinjiang and other provinces. 271 abnormal hemoglobin carriers w as analysed w ith the protein' s first structure analysis technology and 24 kinds of abnomal hemog lobin was discovered, among which HbD Punjab, HbG TaiPei and HbG Coushatta' s frequencies were hig her, 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 w ith gene ty pe assayed, in which CD17 ( A→T) frequency w as the highest and [ -28( A→G). CD17( A→T) /N] dual mutational heterozygotes was the rare gene mutation in the same chromosome, and CD8 (-AA) was firstly discovered in the Chinese, too.According to the ty pical 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 Caucasusin middle Asia, the Han in Huanghe River valley and the ancient nomadic tribe in Mo ngolian Highland, that CD17 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 backg round is so complicated in the region. The mutational gene is of the high heterogeneity and present at the obvious characteristics of genetic epidemiology.

Key words: Genetic Epidemiology; Hemoglobinpathy; Abnormal Hemoglobin; Thalassemia; Silk Road