单点突变在人类糖蛋白iii a与一个新的platelet-specific同种抗原(Mo)参与新生儿同种免疫性血小板减少症。
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Kuijpers RW,西姆西可,Faber NM, Goldschmeding R, van Wermerkerken RK,冯民主党AE承担
单点突变在人类糖蛋白iii a与一个新的platelet-specific同种抗原(Mo)参与新生儿同种免疫性血小板减少症。
血。1993年1月1;81 (1):70 - 6。
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8093349 (在PubMed]
- 文摘
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这里我们描述了一种新的platelet-specific同种抗原被发现在一个新生儿同种免疫性血小板减少症。这种抗原已经暂时被称为“莫”。By studying the Mo family, it was shown to be inherited in an autosomal dominant manner. Immunoprecipitation and Western blot analysis showed that the antigen resides on platelet glycoprotein IIIa (GP IIIa). Genomic analysis, performed by applying polymerase chain reaction and sequencing, showed a C-->G substitution of base pair 1267 of the coding region of the DNA for GP IIIa, resulting in a substitution of Proline407 by Alanine407. That this substitution is associated with the antigen could be demonstrated by restriction fragment length polymorphism analysis of cDNA, prepared from platelet RNA, and of genomic DNA. It was confirmed by dot-blot hybridization with allele-specific oligonucleotides. All family members, also those being Mo antigen-positive, were healthy. None of them appeared to suffer from increased tendency of bleeding or thrombosis. Thus, the Mo mutation does not lead to significant platelet dysfunction in vivo with heterozygous carriers. One of 450 random healthy blood donors who were tested was positive for the Mo antigen. Typing was performed by the classical serologic methods as well as by DNA analysis.