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学科主题: 临床医学
题名:
Whole exon 5 and intron 5 replaced by RHCE in D-Va(Hus)
作者: Shao, CP1; Xiong, W1; Wang, W1
关键词: RHD ; RHCE ; D-Va ; D-VI ; sequencing Chinese
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2004-02-01
DOI: 10.1007/s10038-003-0112-5
卷: 49, 期:2, 页:106-108
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: MONOCLONAL ANTI-D ; D-VA ; PHENOTYPES ; EPITOPES ; CHINESE ; CELLS
英文摘要:

The D-Va(Hus) was previously investigated through cDNA analysis, which revealed an RHD-CE(5)-D hybrid allele. However, the 5′ and 3′ breakpoints remain unknown. In this article, gene recombinations between the RHD and RHCE alleles were investigated by a combination approach of a sequence-specific primer PCR (PCR-SSP) and an RHD full-length coding region sequencing method on two Chinese subjects with weak D phenotypes. The hybrid Rhesus box of each individual was also investigated through an established PCR-based method. As a result, two partial D phenotypes, D-Va(Hus) and D-VI type III, were identified, each carrying one hybrid RHD-CE-D allele. The two samples were also serotyped with Rh phontypes of DccEe and DCcee, respectively. Other sequencing analyses of the D-Va(Hus) sample showed that the sequence of intron 4 is identical with RHD, whereas the whole sequence of exon 5 and intron 5 is identical with RHCE except for seven polymorphisms in the intron 5. We may concluded that in the case of this Chinese D-Va(Hus), the whole exon 5 and complete intron 5 of a total segment of 1801 nucleotides were replaced by RHCE suggesting that the breakpoints of the replaced region are the 5′ end of the exon 5 and the 3′ end of the intron 5.

语种: 英语
WOS记录号: WOS:000189284900008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50956
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Shenzhen Blood Ctr, Futian 518035, Shenzhen, Peoples R China
2.Shenzhen Inst Transfus Med, Futian 518035, Shenzhen, Peoples R China
3.Peking Univ, Shenzhen Hosp, Shenzhen, Peoples R China
4.Edith Cowan Univ, Ctr Human Genet, Perth, WA, Australia
5.Chinese Acad Sci, Grad Sch, Dept Biol, Beijing, Peoples R China
6.Hong Kong Univ Sci & Technol, Peking Univ, Med Ctr, Shenzhen, Peoples R China
7.Peking Univ, Hlth Sci Ctr, Sch Publ Hlth, Beijing 100871, Peoples R China

Recommended Citation:
Shao, CP,Xiong, W,Wang, W. Whole exon 5 and intron 5 replaced by RHCE in D-Va(Hus)[J]. JOURNAL OF HUMAN GENETICS,2004,49(2):106-108.
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