資料來源
- Example:
- // 25086856##2014-8-5##Identification and characterization of a novel splice-site mutation in the Wilson disease gene.##This
study aimed to identify aberrant transcripts of the new splice-site
mutation c.3244-2A>C in the Wilson disease (WD) gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) and discuss its genotype and clinical phenotype. DNA and RNA were extracted from peripheral bloodlymphocytes, amplified by polymerase chain
reaction (PCR) and nested reverse transcription PCR (RT-nested PCR) to
characterize the aberrant transcripts. RT-nested PCR product sequencing
comparison showed that c.3244-2A>C splice-site mutation caused
aberrant transcripts and formatted a new splice acceptor. Patient
carrying the splice-site mutation c.3244-2A>C presented early
onset age, severe clinical manifestations, and poor prognosis.
WD patients with the splice-site mutation show severe clinical
manifestations, indicating that aberrant transcripts have important
implications for WD phenotype.