Journal: Heliyon

Article Title: A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a SLCO1B1 and SLCO1B3 gene mutations patient

doi: 10.1016/j.heliyon.2024.e33864

Figure Lengend Snippet: a–d, Sanger sequencing plot. a, A homozygous nonsense mutation c.1738C > T (p.R580*) was found in the coding region of the SLCO1B1 gene in patients with Rotor syndrome; b, the corresponding wild-type SLCO1B1 gene; c, a homozygous insertion of the retrotransposon long-interspersed element 1 (LINE1) was found in the coding region of the SLCO1B3 gene in patients with Rotor syndrome; d, the corresponding wild-type SLCO1B3 gene. e, Pedigree mapping of families with Rotor type hyperbilirubinemia. Arrows indicate the proband, yellow represents carriers of the SLCO1B1 mutation and blue represents carriers of the SLCO1B3 mutation. f, Pattern plot of insertion LINE1 variants in the SLCO1B3 gene. g, Long Range PCR electropherogram of Line1 insertion mutation. Control lanes failed to amplify any fragment in LINEck-F/LINEck-R1, 277 bp in LINEck-F/LINEck-R2, 349 bp in LINEck-F/LINEck-R1, and none in LINEckF/LINEckR2.h, a 7.9 kb band was amplified from the proband lane in the Long Range PCR electropherogram of the LINE1 insertion mutation. i, A schematic comparison of the haploid versions of the SLCO1B1 and SLCO1B3 genes.

Article Snippet: Next Generation Sequencing Library construction, whole genome library construction (Hieff NGS OnePot DNA Library Prep Kit for Illumina, YEASEN, Shanghai, China) was performed, and whole exome library capture was performed with xGen Exome Research Panelv1.0 (Integrated DNA Technologies, Inc., USA) to construct the whole exome library of the proband.

Techniques: Sequencing, Mutagenesis, Long Range PCR, Control, Amplification, Comparison