Lie-Injo L E, Cai S P, Wahidijat I, Moeslichan S, Lim M L, Evangelista L, Doherty M, Kan Y W
Department of Epidemiology and International Health, University of California, San Francisco 94143-0724.
Am J Hum Genet. 1989 Dec;45(6):971-5.
A total of 72 chromosomes from 36 Indonesian patients, 23 with beta-thalassemia major and 13 with Hb E-beta-thalassemia, were analyzed by specific oligonucleotide hybridization after DNA amplification. Thirteen had the beta E mutation (codon 26 GAG----AAG). Of the 59-beta-thalassemic chromosomes, 32 were of the variant IVS-1 nt5 (G----C). Seven had the mutation IVS-2 nt654 (C----T), one had the mutation codon 41/42 (deletion CTTT), and one had the mutation codon 17 (AAG----TAG). Another six with the mutation IVS-1 nt1 (G----T), one with the mutation IVS-1 nt1 (G----A), four with the mutation codon 15 (TGG----TAG), one with a mutation codon 30 (AGG----ACG), and one with a mutation codon 35 (deletion C) were first identified by direct sequencing of a patient's genomic DNA followed by further hybridizing other patients' DNA with the appropriate oligonucleotide probes. Five did not carry the common mutations previously described in Asian populations. The four most prevalent mutations encountered made up 83% of the total number of beta-thalassemic chromosomes studied. The most common mutation, IVS-1 nt5 (G----C), was mostly associated with two different haplotypes.
对来自36名印度尼西亚患者的72条染色体进行了分析，其中23例为重型β地中海贫血，13例为Hb E-β地中海贫血。DNA扩增后，通过特异性寡核苷酸杂交进行分析。13例携带βE突变（密码子26 GAG----AAG）。在59条β地中海贫血染色体中，32条为IVS-1 nt5（G----C）变异型。7例有IVS-2 nt654（C----T）突变，1例有密码子41/42（CTTT缺失）突变，1例有密码子17（AAG----TAG）突变。另外6例有IVS-1 nt1（G----T）突变，1例有IVS-1 nt1（G----A）突变，4例有密码子15（TGG----TAG）突变，1例有密码子30（AGG----ACG）突变，1例有密码子35（C缺失）突变，这些突变首先通过对一名患者的基因组DNA进行直接测序，然后用合适的寡核苷酸探针与其他患者的DNA进一步杂交而得以鉴定。5例未携带亚洲人群中先前描述的常见突变。所研究的β地中海贫血染色体总数中，四种最常见的突变占83%。最常见的突变IVS-1 nt5（G----C）大多与两种不同的单倍型相关。
