IMAP

1. Construction of a Rapid Microfluidic-based SNP Genotyping (MSG) Chip for Ancestry Inference

In forensic science, ethnic inference can provide clues for criminal investigations, therefore, the timeliness of the test results is very important. In this study, a human population inference chip was constructed using the IMAP platform, which contained 72 autosomal SNPs, 50 samples were tested for SNP typing, and the accuracy of the results was 100%. Based on 3628 samples of 57 populations as the reference population database, the ethnic origin of 110 samples was inferred, and the inferred results were consistent with the actual source of the samples. Studies have shown that the chip can quickly and accurately infer ethnic origin and can be used for forensic DNA identification. The article pointed out that the integration of " sample-in to answer-out" based on the IMAP platform is fast (2.5h) and simple, which is very easy to promote and apply in domestic forensic DNA laboratories.

2. 23 Deafness Gene Mutation Detection Kit(Microfluidic-Chip Method)

Comprehensive coverage：23 Mutation sites in 4 Deafness-related Genes[GJB2 gene, SLC26A4 gene, mitochondria 12S rRNA and GJB3 gene], which cover 90% of hereditary deafness-related gene mutation sites

Rapid detection：Issue detection report within 2 hours

High sensitivity：Detectable as low as 2 ng/μL whole-genome DNA

High accuracy：Clinical samples results are 100% consistent with Sanger sequencing results

3. Development and Application of KASP Assays for Rapid Screening of 8 Genetic Defects in Holstein Cattle

Specific DNA mutations underlying several genetic defects associated with embryo loss or reduced calf survivability have been identified in dairy cattle, and a convenient and cost-effective platform is required for their routine screening. We developed Kompetitive allele-specific PCR (KASP) assays for discrimination of the wild-type alleles from the associated defective alleles at each of 8 common genetic defects in Holstein cattle, involving 5 SNP [HH1, HH3, HH4, bovine leukocyte adhesion deficiency (BLAD), and complex vertebral malformation (CVM)] and 3 insertion or deletion

mutations [HH5, haplotype for cholesterol deficiency (HCD), and brachyspina (BS)]. A total of 390 cows from a Chinese Holstein herd were genotyped and the carriers identified at 7 of these 8 loci (except HH4), with the highest carrier frequencies found for CVM (10.5%) and HH1 (10.0%), followed by HH3 (2.6%), BS (2.1%), HCD (1.3%), HH5 (0.8%), and BLAD (0.5%). Surprisingly, 102 cows (26.2%) carried at least 1 of the 7 defective alleles. Our results demonstrate that these KASP assays are simple, rapid, and reliable for the detection of multiple genetic defects. The high carrier frequency of these genetic defects indicates an urgent need for routine molecular testing to eliminate the deleterious alleles from Chinese Holstein cattle.