Indrak K, Brabec V, Indrakova J, Chrobak L, Sakalova A, Jarosova M, Cermak J, Fei Y J, Kutlar F, Gu Y C
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Hum Genet. 1992 Feb;88(4):399-404. doi: 10.1007/BF00215673.
We have identified different beta-thalassemia mutations in 93 members of 34 families of Czech or Slovakian descent using gene amplification, hybridization with specific 32P-labeled oligonucleotide probes, sequencing of amplified DNA, and gene mapping. The G----A mutation at IVS-I-1 was found in 18 families; other Mediterranean mutations were IVS-II-1 (G----A), IVS-II-745 (C----G), IVS-I-110 (G----A), and codon 39 (C----T); these were present in 9 additional families. The G----T mutation at codon 121, known to cause Heinz-body beta-thalassemia, was present in 3 families, and the frameshift at codons 82/83 (-G), first described in the Azerbaijanian population, in 2 families. A newly discovered allele was a frameshift at codons 38/39 (-C). One beta-thalassemia allele was incompletely characterized. We observed in 2 families a T----C mutation at position +96 UTR (untranslated region) relative to the termination codon; this mutation likely is a rare polymorphism. alpha-Thalassemia was rare; only one person carried the -alpha 3.7 heterozygosity, and one other had a yet to be identified alpha-thalassemia-1, while seven had the alpha alpha alpha anti 3.7 triplication.
我们通过基因扩增、与特定的32P标记寡核苷酸探针杂交、扩增DNA测序和基因定位，在34个捷克或斯洛伐克裔家族的93名成员中鉴定出了不同的β地中海贫血突变。IVS-I-1处的G→A突变在18个家族中被发现；其他地中海突变有IVS-II-1（G→A）、IVS-II-745（C→G）、IVS-I-110（G→A）和密码子39（C→T）；这些突变存在于另外9个家族中。已知会导致亨氏小体β地中海贫血的密码子121处的G→T突变存在于3个家族中，首次在阿塞拜疆人群中描述的密码子82/83处的移码突变（-G）存在于2个家族中。一个新发现的等位基因是密码子38/39处的移码突变（-C）。一个β地中海贫血等位基因的特征不完全明确。我们在2个家族中观察到相对于终止密码子的+96非翻译区（UTR）处有T→C突变；这种突变可能是一种罕见的多态性。α地中海贫血很罕见；只有一人携带-α3.7杂合性，另一人患有尚未确定的α地中海贫血-1，而七人有ααα抗3.7三联体。
