کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1913360 | 1535117 | 2014 | 5 صفحه PDF | دانلود رایگان |
• We found the splice-site mutation c.3244-2A>C results in aberrant transcripts.
• The patient carrying c.3244-2A>C show more severe clinical manifestations.
• These findings reveal important implications of aberrant transcripts in WD phenotype.
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 blood lymphocytes, 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.
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Journal: Journal of the Neurological Sciences - Volume 345, Issues 1–2, 15 October 2014, Pages 154–158