Yalcintepe Sinem, Karal Yasemin, Demir Selma, Atli Emine Ikbal, Atli Engin, Eker Damla, Mail Cisem, Zhuri Drenushe, Guler Hazal Sezginer, Gurkan Hakan
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Department of Pediatric Neurology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Glob Med Genet. 2023 Jun 16;10(2):117-122. doi: 10.1055/s-0043-1770055. eCollection 2023 Jun.
This study aimed to define the copy numbers of and genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the gene and copy numbers were investigated. A total of 133 cases with the preliminary diagnosis of SMA and 113 cases with the suspicion of being an SMA carrier from independent families were analyzed by multiplex ligation-dependent probe amplification method for and gene copy numbers. homozygous deletions were detected in 34 patients (25.5%) of 133 cases with the suspicion of SMA. Cases diagnosed with SMA type I was 41.17% (14/34), 29.4% (10/34) with type II, 26.4% (9/34) with type III, and 2.94% (1/34) with type IV. The SMA carrier rate was 46.01% in 113 cases. In 34 SMA cases, copy numbers were: two copies - 28 cases (82.3%), three copies - 6 cases (17.6%). homozygous deletions were detected in 15% (17/113) of carrier analysis cases. The consanguinity rate of the parents was 23.5% in SMA diagnosed cases. In this study, we had a 25.5% of SMA diagnosis rate and 46% SMA carrier frequency. The current study also showed the relatively low consanguinity rate of the Thrace region, with 23.5% according to the east of Turkey.
本研究旨在确定土耳其色雷斯地区脊髓性肌萎缩症（SMA）的SMN和VAPB基因拷贝数以及诊断率和携带者频率。在本研究中，调查了SMN基因外显子7和8的缺失频率以及VAPB拷贝数。采用多重连接依赖探针扩增法，对133例初步诊断为SMA的病例和113例来自独立家庭的疑似SMA携带者进行了SMN和VAPB基因拷贝数分析。在133例疑似SMA病例中，34例（25.5%）检测到SMN纯合缺失。诊断为I型SMA的病例占41.17%（14/34），II型占29.4%（10/34），III型占26.4%（9/34），IV型占2.94%（1/34）。113例中的SMA携带者率为46.01%。在34例SMA病例中，VAPB拷贝数为：两个拷贝 - 28例（82.3%），三个拷贝 - 6例（17.6%）。在携带者分析病例中，15%（17/113）检测到VAPB纯合缺失。SMA诊断病例中父母的近亲结婚率为23.5%。在本研究中，我们的SMA诊断率为25.5%，SMA携带者频率为46%。当前研究还显示，色雷斯地区的近亲结婚率相对较低，与土耳其东部相比为23.5%。
