Susanto ZaenalAdi, Siswandari Wahyu, Rujito Lantip
Departement of Biochemistry, Institute of Health Sciences (STIKES) Wiyata Husada Samarinda, Indonesia.
Departement of Clinical Pathology, Faculty of Medicine, Universitas Jenderal Soedirman, Indonesia.
Mol Genet Metab Rep. 2019 Dec 20;22:100550. doi: 10.1016/j.ymgmr.2019.100550. eCollection 2020 Mar.
Thalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan.
The research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations.
The study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an average age of 14 years, and the dominant ethnic group was Javanese (64.5%). The DNA analysis yielded 7 types of mutant alleles, namely Cd26/HbE (GAG>AAG) at 48.4%, IVS-1-5 (G > C) at 14.5%, IVS-1-2 (T > C) at 12.9%, Cd35 (-C) at 8.1%, IVS-1-1 (G > T) at 6.5%, and, the least frequently encountered mutant alleles, Cd30 (AGG > ACG) and Cd60 (GTG > GAG) each at 3.2%.
This study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG).
地中海贫血是一种在全球范围内具有较高患病率的遗传性疾病。据估计，3%至10%的印度尼西亚人是地中海贫血的携带者。本研究旨在查明东加里曼丹省三马林达市地中海贫血患者的基因突变谱。
研究对象包括在三马林达市地中海贫血患者家长协会（POPTI）登记的31例β地中海贫血患者。从患者的血样中提取DNA，然后通过聚合酶链反应直接测序技术进行扩增，以分析β珠蛋白基因突变。
研究结果显示，男女比例为51.6%:48.4%，患者年龄在4岁至56岁之间，平均年龄为14岁，主要族群为爪哇族（64.5%）。DNA分析产生了7种突变等位基因类型，即Cd26/HbE（GAG>AAG），占48.4%；IVS-1-5（G>C），占14.5%；IVS-1-2（T>C），占12.9%；Cd35（-C），占8.1%；IVS-1-1（G>T），占6.5%；以及最不常见的突变等位基因Cd30（AGG>ACG）和Cd60（GTG>GAG），各占3.2%。
本研究发现了印度尼西亚未报告的突变，即Cd60（GTG>GAG）。
