MARSALA technique is a new genetic diagnosis method for preimplantation embryos. PGTM is a one-step sequencing method that simultaneously detects gene loci, chromosome aneuploidy and SNP loci. This technique was published in the proceedings of the National Academy of Sciences (PNAS) on December 28, 2015 by Xie Xiaoliang, Qiao Jie and Tang Fuchou team from Peking University.
This technique is based on MALABC genome-wide amplification combined with low-depth high-throughput sequencing (NGS), which can simultaneously detect pathogenic mutation sites, chromosome aneuploidy and SNP linkage analysis in a single sequencing process. Including the main steps of embryo cell sample genome acquisition, whole genome amplification, target gene mutation site amplification, whole genome amplification products and target gene mutation site construction, high-throughput sequencing and data analysis. The multiple comprehensive detection can be completed in one step. It avoids the use of multi-methods and multi-steps to carry out single-gene genetic disease mutation sites, chromosomal diseases and linkage analysis. Because of its simple operation, short cycle and strong feasibility, it significantly improves the accuracy of PGT detection, reduces the operation time of detection experiment and reduces the experimental cost.
High Precision, Comprehensive Analysis
MARSALA can not only accurately diagnose single-gene genetic diseases, but also accurately screen for chromosomal abnormalities.
Because the sequence information of pathogenic mutation sites can be read at least thousands of times, the results are more intuitive and reliable than traditional diagnostic methods.
Capable of Multiple Verification
In addition to in-depth analysis of mutation site sequence information, high-precision genetic linkage analysis is also completed, providing multiple SNP linkage site information, and conducting multiple detection and repeated verification of pathogenic alleles.
Reduce The Cost
Using MARSALA for embryo diagnosis, all analytical needs can be met at sequencing depth (2X) with twice the genome coverage.
Easy to Operate
Accurate diagnosis results of gene mutation, chromosome abnormality and mutation site linkage information can be obtained by one-step high-throughput measurement.
High Compatibility to The Family of Patients with Various Genetic Diseases
Even if no offspring with genetic disease is born, the exact diagnosis of the embryo can be made if only a sample of the ivf couple is available.
Wide Range of Application
Any type of genetic mutation can be diagnosed using the MARSALA method.
Currently, MARSALA technology has been applied to PGT-M and MaReCs.
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by nextgeneration sequencing with linkage analyses
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