| Autor: |
Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2350 |
| DOI: |
10.1186/s12881-018-0706-6 |
| Popis: |
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produces polycystin-2) are responsible for this disease. These two polycystins are critical for maintaining normal renal tubular structures during kidney development. Case presentation We performed genetic analysis on a family with ADPKD. DNA samples extracted from ADPKD patient blood were subject to targeted Next generation sequencing for human a panel of renal disease-related genes. A splicing mutation, c.2854-3C > G (also known as IVS11–3C > G), in the PKD1 gene was found in the 3 patients from the family, but was not found in four unaffected relatives and 100 normal control samples. Reverse transcription-PCR (RT-PCR) was performed to analyse the relative mRNA expression in the patient samples. mRNA sequencing showed that 29 bases inserted into the 3′-end of exon 11 in the PKD1 gene lead to a frameshift mutation. Conclusions The PKD1 c.2854-3C > G mutation leads to a frameshift mutation during translation of the polycystin-1 protein, which eventually led to ADPKD in the Chinese family. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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