Aulehla-Scholz C, Basaran S, Agaoglu L, Arcasoy A, Holzgreve W, Miny P, Ridolfi F, Horst J
Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
Hum Genet. 1990 Jan;84(2):195-7. doi: 10.1007/BF00208941.
Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for beta-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift at codon 8 were the most frequent. By direct sequencing we characterized two very rare mutations not previously reported in the Turkish population: a frameshift +1 at codons 9/10 and a nonsense mutation at codon 15.
通过限制性内切酶分析、寡核苷酸杂交以及对扩增的基因组DNA进行直接测序，我们对来自土耳其的26名β地中海贫血纯合子患者DNA中的11种不同突变进行了特征分析。我们发现，IVS-1 nt110、IVS-1 nt6突变以及第8密码子处的移码突变最为常见。通过直接测序，我们鉴定出了土耳其人群中此前未报道过的两种非常罕见的突变：第9/10密码子处的+1移码突变和第15密码子处的无义突变。
