摘要 目的：探讨广东地区中间型β地中海贫血（β地贫）的分子遗传学机制，为中间型β地贫的基因诊断和基因治疗提供科学依据。方法：应用基因芯片，Southern印迹杂交和DNA直接测序技术，对广东地区18例中间型β地贫患儿进行α，β及γ珠蛋白基因的分子遗传学分析。结果：在18例中间型β地贫患儿中，1例为β基因TATA box- 28(A→ G )突变纯合子，1例为β基因βE26(G→ A )突变纯合子，10例为TATA box- 28(A→ G )与其他β基因突变的双重杂合子，2例为βE26(G→ A )与其他β基因突变的双重杂合子，4例为β地贫同时复合α地贫。结论：中间型β地贫的分子遗传学机制有高度的异质性，广东地区中间型β地贫的分子遗传机制与中国其他地区相比有差别。［中国当代儿科杂志，2007，9（4）：358-360］
Abstract：OBJECTIVE: To determine the molecular defects of β-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder. METHODS: DNA analysis of the α, β and γ globin genes was performed in 18 children with β-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR ), microarray technique, Southern blot and direct sequencing. RESULTS: Of the 18 patients,one was identified as the homozygote of TATA box-28 (A→G) change, one as the homozygote of βE26 (G→A) mutation, ten as compound heterozygotes of TATA box- 28(A→G) mutation with other β-globin mutations, two as compound heterozygotes of βE26 (G→A ) mutation with other β globin mutations, and four as double heterozygotes for β globin and α globin mutations including -SEA and -α4.2. CONCLUSIONS: The molecular defects of β- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.［Chin J Contemp Pediatr, 2007, 9 (4):358-360］
