Taken together, i- MLPA procedure helps obtaining non-ambiguous CNV calls within 6h without compromising accuracy. No variation was observed for the new reference probes. Three deletions and two duplications were identified among the 240 schizophrenia patients. Using i- MLPA, we screened 240 schizophrenia patients for CNVs in 15q11.2 region. An improved MLPA (i- MLPA) method was developed by generating a new set of reference probes to reduce the chances of ambiguous calls and new reagents that reduce hybridization times to 30 min from 16h to obtain MLPA ratio data within 6h. Further in silico analysis revealed that 18 out of 19 reference probes hybridize to regions subject to variation, underlining the requirement for designing new reference probes against variation-free regions. However, we observed ambiguous calls for two reference probes in an investigation of the human 15q11.2 region by MLPA among 20 controls, due to the presence of single nucleotide polymorphisms (SNPs) in the probe-binding regions. In Multiplex Ligation-dependent Probe Amplification ( MLPA), copy number variants (CNVs) for specific genes are identified after normalization of the amounts of PCR products from ligated reference probes hybridized to genomic regions that are ideally free from normal variation. Saxena, Sonal Gowdhaman, Kavitha Kkani, Poornima Vennapusa, Bhavyasri Rama Subramanian, Chellamuthu Ganesh Kumar, S Mohan, Kommu Naga Improved Multiplex Ligation-dependent Probe Amplification (i- MLPA) for rapid copy number variant (CNV) detection.
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