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Analysis of genetic variants in a case with Rotor syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 359-362, 2021.
Artigo em Chinês | WPRIM | ID: wpr-879586
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient featuring Rotor syndrome.@*METHODS@#Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR.@*RESULTS@#WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript.@*CONCLUSION@#The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Íntrons / Éxons / Transportador 1 de Ânion Orgânico Específico do Fígado / Sequenciamento do Exoma / Homozigoto / Hiperbilirrubinemia Hereditária Limite: Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Íntrons / Éxons / Transportador 1 de Ânion Orgânico Específico do Fígado / Sequenciamento do Exoma / Homozigoto / Hiperbilirrubinemia Hereditária Limite: Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo