MLPA法分析246例土耳其病例SMN1、SMN2拷贝数的频率。

IF 1.2 Q4 GENETICS & HEREDITY Global Medical Genetics Pub Date : 2023-06-01 DOI:10.1055/s-0043-1770055
Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan
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引用次数: 0

摘要

本研究旨在确定SMN1和SMN2基因拷贝数以及土耳其色雷斯地区脊髓性肌萎缩症(SMA)的诊断率和携带者频率。本研究对SMN1基因外显子7和8的缺失频率和SMN2拷贝数进行了研究。采用多重连接依赖探针扩增法对133例SMA初步诊断病例和113例独立家族疑似SMA携带者进行SMN1和SMN2基因拷贝数分析。133例SMA疑似病例中,34例(25.5%)检测到SMN1纯合缺失。其中,1型占41.17%(14/34),2型占29.4%(10/34),3型占26.4%(9/34),4型占2.94%(1/34)。113例SMA携带者率为46.01%。34例SMA患者中SMN2拷贝数为:2拷贝28例(82.3%),3拷贝6例(17.6%)。15%(17/113)的携带者分析病例检测到SMN2纯合缺失。SMA确诊病例中父母的血亲率为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%。目前的研究还表明,色雷斯地区的血缘率相对较低,根据土耳其东部的数据,为23.5%。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method.

This study aimed to define the copy numbers of SMN1 and SMN2 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 SMN1 gene and SMN2 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 SMN1 and SMN2 gene copy numbers. SMN1 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, SMN2 copy numbers were: two copies - 28 cases (82.3%), three copies - 6 cases (17.6%). SMN2 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.

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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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