The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci
| العنوان: | The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci |
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| المؤلفون: | Berk Ozyilmaz, Yasar B. Kutbay, Kadri Murat Erdoğan, Taha Reşid Özdemir, Merve Saka Guvenc, Altug Koc, Ozgur Kirbiyik, Ozge Ozer Kaya |
| المصدر: | J Pediatr Genet |
| بيانات النشر: | Georg Thieme Verlag KG, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Genetics, congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, Microarray analysis techniques, 030305 genetics & heredity, Single-nucleotide polymorphism, Biology, medicine.disease, Uniparental disomy, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, SNP, Multiplex, DNA microarray, 030217 neurology & neurosurgery, Genetics (clinical), SNP array |
| الوصف: | Prader–Willi, Angelman, Beckwith–Wiedemann, and Russell–Silver are imprinting syndromes. In this study, we aimed to compare the efficiency of single nucleotide polymorphism (SNP) microarray analysis with methylation-specific Multiplex ligation-dependent probe amplification (MS-MLPA) in the detection of uniparental disomy in these syndromes. The patient samples with regions of loss of heterozygosity (LOH), covering 15q11.2 and 11p15.5 critical loci, were analyzed with MS-MLPA to demonstrate the efficiency of SNP microarray in the detection of uniparental disomy (UPD). In a total of seven patients, LOH covering 15q11.2 and 11p15.5 critical loci was detected. Two (28.6%) of these seven patients showed aberrant methylation (suggesting UPD) in MS-MLPA. SNP microarray is a useful tool in the detection of LOH; however, it should be used with caution, since false-positive or false-negative LOH results can be obtained. Although methylation analysis is recommended as the first tier test in the diagnosis of most of the imprinting disorders, combining methylation analysis with SNP microarray can enhance our evaluation process. |
| تدمد: | 2146-460X 2146-4596 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84cdd4a47f5c87a86a2e62363682a7d0 https://doi.org/10.1055/s-0039-1698420 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....84cdd4a47f5c87a86a2e62363682a7d0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2146460X 21464596 |
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