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地中海贫血(thalassemia,地贫),是我国两广地区一种常见常染色体隐性单基因遗传病,特别是广西当地人群地贫基因携带率高达24.5%。为杜绝中、重型地贫患儿的出生,降低出生缺陷的发病率,实现优生优育,对婚检、孕检夫妇实现准确地贫基因诊断显得尤为重要。在我国,导致α-地贫常见基因型有--SEA、-α3.7、-α4.2三种缺失和αCS、αWS、αQS三种点突变。以点突变为主的β-地贫包括:
Thalassemia (thalassemia) is a common autosomal recessive single-gene disease in Guangdong and Guangxi, especially in China. The transmission rate of thalassemia gene in Guangxi population is as high as 24.5%. In order to prevent the birth of middle and heavy thalamic children, reduce the incidence of birth defects and achieve prenatal and postnatal care, it is very important for couples and pregnant couples to accurately diagnose lean genes. In our country, the common genotypes of a-thalassemia are --SEA, -α3.7, -α4.2 three kinds of deletion and αCS, αWS, αQS three kinds of point mutations. Β-thalassex major in point mutations include: