Prevalent Beta Thalassemia mutations

Targeted DNA Sequencing: Genotype sequencing will be performed to detect point mutations, deletions, and other alterations within the beta-globin gene that are commonly associated with beta-thalassemia.Mutation Hotspot Analysis: Specific regions of the HBB gene known for high mutation rates, such as codons 26, 41/42, and IVS-I and IVS-II regions, will be closely examined to identify prevalent mutations.Allelic Variation Studies: The study will explore the frequency and distribution of allelic variants in the population, providing insights into the genetic diversity of beta-thalassemia carriers.

靶向DNA测序（Targeted DNA Sequencing）：将开展基因型测序，以检测β珠蛋白基因（beta-globin gene）内与β地中海贫血（beta-thalassemia）密切相关的点突变、缺失及其他基因变异。突变热点分析（Mutation Hotspot Analysis）：将重点筛查HBB基因中突变率较高的特定区域，例如密码子26、41/42以及内含子I（IVS-I）、内含子II（IVS-II）区域，以识别高发突变。等位基因变异研究（Allelic Variation Studies）：本研究将探究人群中等位基因变异的频率与分布情况，为解析β地中海贫血携带者的遗传多样性提供科学依据。