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学科主题: 临床医学
题名:
Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred
作者: Zhang, Hongwen1; Ding, Jie1; Wang, Fang1; Yang, Huixia2
刊名: GENETIC TESTING
发表日期: 2008-03-01
DOI: 10.1089/gte.2007.0026
卷: 12, 期:1, 页:1-7
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity ; Medicine, Research & Experimental
研究领域[WOS]: Genetics & Heredity ; Research & Experimental Medicine
关键词[WOS]: MATERNAL CELL CONTAMINATION ; COL4A5 COLLAGEN GENE ; AUTOSOMAL-DOMINANT ; MUTATIONS ; PCR ; DNA ; DISEASE ; ATTITUDES ; LINKAGE ; FAMILY
英文摘要:

Alport syndrome ( AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant AS ( XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5 gene. An accurate genetic diagnosis of AS is very important for genetic counseling and even prenatal diagnosis. In this study we detected mutation of COL4A5 by amplifying the entire coding sequence mRNA of peripheral blood lymphocytes using nested PCR in a Chinese XLAS family, and then performed the first prenatal diagnosis of AS in China. Mutation analysis of the fetus was performed on both cDNA-based level and DNA- based level of amniocytes. Fetus sex was determined by PCR amplification of SRY and karyotypes analysis. Maternal cell contamination was excluded by linkage analysis. There was a G-to-A substitution at position 4271 in exon 46 of COL4A5 gene ( c. G4271A) in the pregnant woman; this genetic variant has not been described previously and was a novel missense mutation. The fetus did not carry the same mutation as the mother. PCR amplification product of SRY and karyotypes analysis revealed a male fetus. Linkage analysis showed that there was no contamination of maternal cells in amniocytes.

语种: 英语
WOS记录号: WOS:000255019900001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50565
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: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Obstet & Gynaecol, Beijing 100034, Peoples R China

Recommended Citation:
Zhang, Hongwen,Ding, Jie,Wang, Fang,et al. Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred[J]. GENETIC TESTING,2008,12(1):1-7.
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