Comparative molecular approaches in Prader-Willi syndrome diagnosis
详细信息 查看全文
- 作者：Anca Botezatua ; gnanka30@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Maria Puiub ; Natalia Cucuc ; Carmen C. Diaconua ; C. Badiud ; C. Arsenec ; Iulia V. Iancua ; Adriana Plesaa ; Gabriela Antona
- 关键词：Angelman ; AS ; C15orf2 (NPAP1) ; nuclear pore associated protein1 ; DNA ; deoxyribonucleic acid ; EDTA ; Ethylenediaminetetraacetic acid ; FISH ; fluorescence in situ hybridization ; GAPDH ; glyceraldehyde-3-phosphate dehydrogenase ; HERC2 ; HECT and RLD domain containing E3 ubiquitin protein ligase 2 ; MAGEL2 ; melanoma antigen family L2 ; MKRN3 ; makorin ring finger protein 3 ; MS-MLPA ; methylation-specific multiplex ligation-dependent probe amplification ; NDN ; necdin ; NIPA1 ; non-imprinted in Prader&ndash ; Will
- 刊名：Gene
- 出版年：2016
- 出版时间：10 January 2016
- 年：2016
- 卷：575
- 期：2
- 页码：353-358
- 全文大小：695 K
文摘
- •
NIPA1 and OCA2 expression level correlates with the MLPA study for copy number variation detection.
- •
Patients with NIPA1 and OCA2 deletion present 104 times less mRNA molecules of targeted genes
- •
Detection of NIPA1 and OCA2 gene expression levels, could serve as an alternate method for identification of PWS deletions.