Ringelhann B, Szelenyi J G, Horanyi M, Svobodova M, Divoky V, Indrak K, Hollân S, Marosi A, Laub M, Huisman T H
Trencseni ut 39/b, Budapest, Hungary.
Hum Genet. 1993 Oct;92(4):385-7. doi: 10.1007/BF01247340.
We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.
我们在17个匈牙利家庭的32名成员中鉴定出了7种不同的β地中海贫血突变和1种δβ地中海贫血决定因素（西西里类型）。最常见的突变是IVS-I-1（G→A）改变；其高频率与在邻国捷克斯洛伐克观察到的情况相当。其他突变起源于地中海地区。一种罕见突变（起始密码子ATG→GTG）由于β珠蛋白基因中不存在已知多态性而被鉴定为独立突变。在一个个体中观察到密码子51处有一个新的移码突变（-C）；血液学数据符合β0地中海贫血杂合子的预期。
