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学科主题: 临床医学
题名:
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts
作者: Wang, F; Wang, YF; Ding, J; Yang, JY
关键词: nephritis ; hereditary ; transcription ; mutation ; RNA ; messenger ; collagen type IV ; fibroblast
刊名: KIDNEY INTERNATIONAL
发表日期: 2005-04-01
卷: 67, 期:4, 页:1268-1274
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Urology & Nephrology
研究领域[WOS]: Urology & Nephrology
关键词[WOS]: LINKED ALPORT-SYNDROME ; IV COLLAGEN ; MESSENGER-RNA ; PCR ; IDENTIFICATION ; ALPHA-5(IV) ; EXPRESSION ; EXONS ; CHAIN ; SSCP
英文摘要:

Background. Alport syndrome is a progressive hereditary glomerulonephritis that is characterized by hematuria, sensorineural deafness, ocular lesions, and progressive renal failure. The majority of cases (about 85%) are caused by mutations in the COL4A5 gene on the X chromosome which encodes the type IV collagen alpha 5 chain (X-linked Alport syndrome).

Methods. In this study we performed a systematic analysis of the entire coding region of COL4A5 mRNA in 31 unrelated Chinese X-linked Alport syndrome patients and four controls by using reverse transcription-polymerase chain reaction (RT-PCR) and direct sequencing methods. The mRNA analyzed was isolated from cultured skin fibroblasts of Alport syndrome patients.

Results. The entire sequences of mRNA of the controls corresponded exactly to the published sequence. There were 28 variants detected by analyzing mRNA of COL4A5 in 28/31 patients. Of those, a total of 25 functionally significant COL4A5 mutations was confirmed in 25/31 patients by using RT-PCR method and subsequently confirmed at genomic DNA level, which included seven different mutations described in previous reports, and 18 novel mutations. The mutation detection rate was 80.6% (25/31), which is comparable with the highest previous detection sensitivity of COL4A5 mutations in evident X-linked Alport syndrome using genomic DNA. Furthermore, three splicing mutations that occurred at the cryptic splice sites and would be overlooked or simply considered as intronic sequence variations by solely analyzing genomic DNA were identified in this study.

Conclusion. RT-PCR and direct sequencing using cultured skin fibroblasts RNA is a practical approach with high sensitivity for genetic analysis in X-linked Alport syndrome patients.

语种: 英语
WOS记录号: WOS:000227596500006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59381
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Wang, F,Wang, YF,Ding, J,et al. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts[J]. KIDNEY INTERNATIONAL,2005,67(4):1268-1274.
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