PDF(Pubmed)
Abstract：
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population.
METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.
RESULTS: The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%). In Addition 242/11379 (2.13%) had two copies of SMN1 and the rs143838139, which may explain the (2 + 0) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in SMN1 and SMN2, respectively.
CONCLUSIONS: The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.
METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.
RESULTS: The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%). In Addition 242/11379 (2.13%) had two copies of SMN1 and the rs143838139, which may explain the (2 + 0) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in SMN1 and SMN2, respectively.
CONCLUSIONS: The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.
摘要：
背景：脊髓性肌萎缩症（SMA）是由SMN1第7外显子的突变和缺失引起的常染色体隐性遗传疾病。在一般人群中，SMN1突变的载波频率范围为2％至4％。
方法：我们检查了等位基因，来自卡塔尔生物库（QBB）的13,426个样品中SMN1和SMN2的基因型相关性和拷贝数（CN）变化和频率，以提供与其他人群相比卡塔尔SMA载波频率的精确估计。
结果：发现SMA载波频率为（2.8％），在491/13426（3.66％）的个体中发现rs143838139。SNPrs121909192是致病危险因素，在321/13500（2.38%）中发现。另外,242/11379(2.13%)具有SMN1和rs14383838139的两个拷贝,这可以解释(2+0)沉默载体。此外,发现两名参与者为SMA4型,SMN1和SMN2的拷贝数分别为0和4.
结论：发现卡塔尔的SMA载波频率与沙特阿拉伯和白种人相当。可能的致病变异，rs121909192，在我们的研究中发现，当与其他人比较时，rs121909192明显更高。rs143838139变体，与沉默携带者基因型有很强的关联，已被发现。因此,检测该SNP可以提高评估患者患病儿童可能性的准确性.我们得出的结论是，卡塔尔人口和其他种族中SMA携带者的频率各不相同。
方法：我们检查了等位基因，来自卡塔尔生物库（QBB）的13,426个样品中SMN1和SMN2的基因型相关性和拷贝数（CN）变化和频率，以提供与其他人群相比卡塔尔SMA载波频率的精确估计。
结果：发现SMA载波频率为（2.8％），在491/13426（3.66％）的个体中发现rs143838139。SNPrs121909192是致病危险因素，在321/13500（2.38%）中发现。另外,242/11379(2.13%)具有SMN1和rs14383838139的两个拷贝,这可以解释(2+0)沉默载体。此外,发现两名参与者为SMA4型,SMN1和SMN2的拷贝数分别为0和4.
结论：发现卡塔尔的SMA载波频率与沙特阿拉伯和白种人相当。可能的致病变异，rs121909192，在我们的研究中发现，当与其他人比较时，rs121909192明显更高。rs143838139变体，与沉默携带者基因型有很强的关联，已被发现。因此,检测该SNP可以提高评估患者患病儿童可能性的准确性.我们得出的结论是，卡塔尔人口和其他种族中SMA携带者的频率各不相同。
