Fig. 1 | Scientific Reports

Fig. 1

From: Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers

Fig. 1

STR linkage analysis and CASMA-trio analysis pattern graph of 2 + 0 carriers in three-generation family with a proband (a) (b) STR linkage analysis pattern graph of Family 1 and Family 2. The mother’s genotype was inferred based on the proband and the genotypes of the maternal grandparents. Vertical lines of different colors represent chromosomes from different origins. The dashed boxes on the vertical lines indicate 0 copy, while the solid boxes represent 1 copy. S06, S04, S07, S01, S05, S08, S02, and S03 represent the eight molecular marker loci, and the numbers in the graph indicate the PCR amplification fragment lengths (bp) of each molecular marker locus; (c) IGV plot of Family 1, (d) IGV plot of Family 2. (c) and (d) show the SMN1 -FL haplotypes. Arrows indicate the inheritance of alleles across generations.

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