Murad Hossam, Moasses Faten, Dabboul Amir, Mukhalalaty Yasser, Bakoor Ahmad Omar, Al-Achkar Walid, Jarjour Rami A
a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.
b Thalassemia Centre , Damascus , Syria.
Hematology. 2018 Oct;23(9):697-704. doi: 10.1080/10245332.2018.1461291. Epub 2018 Apr 11.
β-Thalassemia disease is caused by mutations in the β-globin gene. This is considered as one of the common genetic disorders in Syria. The aim of this study was to identify the geographical distribution of the β-thalassemia mutations in Syria.
β-Globin gene mutations were characterized in 636 affected patients and 94 unrelated carriers using the amplification refractory mutations system-polymerase chain reaction technique and DNA sequencing.
The study has revealed the presence of 38 β-globin gene mutations responsible for β-thalassemia in Syria. Important differences in regional distribution were observed. IVS-I.110 [G > A] (22.2%), IVS-I.1 [G > A] (17.8%), Cd 39 [C > T] (8.2%), IVS-II.1 [G > A] (7.6%), IVS-I.6 [T > C] (7.1%), Cd 8 [-AA] (6%), Cd 5 [-CT] (5.6%) and IVS-I.5 [G > C] (4.1%) were the eight predominant mutations found in our study. The coastal region had higher relative frequencies (37.9 and 22%) than other regions. A clear drift in the distribution of the third common Cd 39 [C > T] mutation in the northeast region (34.8%) to the northwest region (2.5%) was noted, while the IVS-I.5 [G > C] mutation has the highest prevalence in north regions. The IVS-I.6 [T > C] mutation had a distinct frequency in the middle region. Ten mutations -86 [C > G], -31 [A > G], -29 [A > G], 5'UTR; +22 [G > A], CAP + 1 [A > C], Codon 5/6 [-TG], IVS-I (-3) or codon 29 [C > T], IVS-I.2 [T > A], IVS-I.128 [T > G] and IVS-II.705 [T > G] were found in Syria for the first time.
These data will significantly facilitate the population screening, genetic counseling and prenatal diagnosis in Syrian population.
β地中海贫血症由β珠蛋白基因突变引起。这被认为是叙利亚常见的遗传疾病之一。本研究的目的是确定叙利亚β地中海贫血基因突变的地理分布。
采用扩增阻滞突变系统-聚合酶链反应技术和DNA测序对636例受影响患者和94例无关携带者的β珠蛋白基因突变进行特征分析。
该研究揭示了叙利亚存在38种导致β地中海贫血的β珠蛋白基因突变。观察到区域分布存在重要差异。IVS-I.110 [G＞A]（22.2%）、IVS-I.1 [G＞A]（17.8%）、Cd 39 [C＞T]（8.2%）、IVS-II.1 [G＞A]（7.6%）、IVS-I.6 [T＞C]（7.1%）、Cd 8 [-AA]（6%）、Cd 5 [-CT]（5.6%）和IVS-I.5 [G＞C]（4.1%）是本研究中发现的八种主要突变。沿海地区的相对频率（37.9%和22%）高于其他地区。注意到第三个常见的Cd 39 [C＞T]突变在东北地区的分布（34.8%）向西北地区（2.5%）有明显漂移，而IVS-I.5 [G＞C]突变在北部地区的患病率最高。IVS-I.6 [T＞C]突变在中部地区有明显的频率。-86 [C＞G]、-31 [A＞G]、-29 [A＞G]、5'UTR；+22 [G＞A]、CAP +1 [A＞C]、密码子5/6 [-TG]、IVS-I（-3）或密码子29 [C＞T]、IVS-I.2 [T＞A]、IVS-I.128 [T＞G]和IVS-II.705 [T＞G]这10种突变首次在叙利亚被发现。
这些数据将极大地促进叙利亚人群的群体筛查、遗传咨询和产前诊断。
