一个中国人患有DEL表型,由一种新的RHD等位基因引起
Fan Wu1, Ya-Dan Luo2, Shuang Liang1
1Shenzhen Blood Center, Shenzhen 518040, China.
概括
在一个表现出DEL表型的中国人身上发现了一种新的RHD等位基因,RHD c.1127 T>G. 这一发现扩大了已知的DEL表型变异,这对于输血兼容性至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 血液学 血液学 血液学
背景情况:
- 包括部分D,弱D和DEL (删除E) 在内的RhD变异带来了诊断挑战.
- 德尔表型需要专门的血清学或分子方法来准确检测.
研究的目的:
- 报告一个中国人的DEL表型病例.
- 描述与DEL表型相关的新型RHD等位基因.
主要方法:
- 血清检测包括盐酸凝结,间接抗球蛋白检测和吸附-疏离.
- 分子技术:PCR序列特异性原始 (PCR-SSP) 和桑格二氧化测序用于RHD基因型定型.
主要成果:
- 该个体呈现出一个DEL表型,在盐水和间接抗球蛋白测试中呈阴性,但通过吸附-化呈阳性.
- 基因型鉴定揭示了一种半异形的新型等位基因:RHDc.1127 T>G/RHD-.
- 新型等位基因序列已提交给GenBank (加入号:OR608456).
结论:
- 在这个中国病例中,一种新的RHD基因,RHD c.1127 T>G,负责DEL表型.
- 这一发现有助于扩大DEL变体的数据库,有助于输血医学.
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