论文部分内容阅读
目的 对贵州西江地区苗族同胞进行 β -地中海贫血基因分析 ,了解 β -珠蛋白基因在苗族人群中的变异情况。方法 用常规酚 -氯仿抽提法提取 β地中海贫血携带者DNA ,经PCR -反向点杂交法对 β珠蛋白进行突变基因分析 ,对未检出突变的标本 ,测定其 β -珠蛋白基因序列确定基因变异情况。结果 在受检的 4 2例 β -地中海贫血携带者中 ,经PCR-反向点杂交法检出CD4 1- 4 2突变 2 0例、CD17突变 17例 ,未检出突变标本经 β -珠蛋白基因序列测定发现了CD2 (CAC→CAT)、IVS - 2 - 16 (C→G )、IVS - 2 - 74 (G→T)、IVS - 2 - 81(CT重合 ) 4种 β -珠蛋白基因变异情况。结论 贵州西江地区苗族人群中 β -珠蛋白基因变异很有自己独特的特点。
Objective To analyze the β - thalassemia gene in Miao people in Xijiang area of Guizhou province and find out the variation of β - globin gene in Miao people. Methods The DNA of β thalassemia patients was extracted by conventional phenol - chloroform extraction and the β - globin gene was analyzed by PCR - dot blot hybridization. The β - globin gene sequence Determine the gene mutation. Results Twenty - two cases of CD4 (superscript 1-42) mutation and 17 cases of CD17 mutation were detected by PCR - reverse dot blot in 42 subjects with β - thalassemia, and no mutation was detected by β - beads Protein sequence analysis revealed that there were four kinds of β - globin (C - CAT), CTS → CAT, IVS - 2 - 16 (C → G), IVS - 2 - 74 Genetic variation. Conclusion The β - globin gene variation in Miao people in Xijiang area of Guizhou Province has its own unique characteristics.