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目的 :弄清过去所发现遗传性胎儿血红蛋白持续增多症 (HPFH )的类型和分子机制。方法 :用血红蛋白淀粉 -琼脂混合凝胶电泳检出胎儿血红蛋白 (HbF)增多、醋酸纤维膜电泳洗脱定量、酸洗脱法观察HbF在红细胞中分布、β珠蛋白基因族中基因缺失情况的分析、SouthernBlot、Gγ启动子 -15 8附近情况的分析 (酶切 ,测序 )、单体型分析、α珠蛋白基因数目的研究等。结果 :与一般HPFH不同 ,此例是 β珠蛋白基因缺失、δ珠蛋白基因存在。缺失的全长约为 2 7kb ,包括整个 β珠蛋白基因和它的 3’HS1区。先证者的α珠蛋白基因型为 :ααα/αα、其父亲为αα/αα。结论 :此例HPFH为东南亚型 ,属于 β。 地中海贫血范畴。特殊之处是多出一个α珠蛋白基因 ,患者HbF显著增高的原因可能与此有关
Objective: To clarify the type and molecular mechanism of hereditary fetal hemoglobin (HPFH) in the past. Methods: Fetal hemoglobin (HbF) was increased by hemoglobin starch-agar gel electrophoresis. Elution was quantified by cellulose acetate membrane electrophoresis. The distribution of HbF in erythrocytes and the gene deletion in β-globin gene family were analyzed by acid-eluting method , SouthernBlot, Gγ promoter -158 analysis (digestion, sequencing), haplotype analysis, α-globin gene number of studies. Results: Unlike the normal HPFH, this case is the absence of β-globin gene and the presence of δ-globin gene. The total length of deletion is about 27 kb, including the entire β-globin gene and its 3’HS1 region. The a-globin genotype of the proband is: ααα / αα, whose father is αα / αα. Conclusion: This case of HPFH is Southeast Asian type, belonging to β. Mediterranean anemia category. What is special is that there is more alpha-globin gene, and the reason why patients with HbF significantly increased may be related to this