Rh血型弱D和DEL表型的基因突变分析

基础医学与临床 ›› 2012, Vol. 32 ›› Issue (4): 447-450.

Rh血型弱D和DEL表型的基因突变分析

金辉¹,张一兵¹,佟青¹,罗喜钢²,²

1. 辽宁医学院附属第三医院
2.

收稿日期:2011-11-18 修回日期:2012-02-24 出版日期:2012-04-05 发布日期:2012-03-21
通讯作者: 金辉 E-mail:dongzl1@sina.com

Gene Mutation Analysis Of The Rh WeakD And DEL Phenotype

Received:2011-11-18 Revised:2012-02-24 Online:2012-04-05 Published:2012-03-21
Contact: Hui JIN E-mail:dongzl1@sina.com

摘要/Abstract

摘要： 摘要目的研究Rh血型弱D和DEL表型的分子基础。方法用间接抗人球蛋白方法（IAT）和吸收放散的血清学方法鉴定弱D表型和DEL表型，然后用RHD基因特异的聚合酶链反应-序列特异性（PCR-SSP）和序列分析方法鉴定Rh血型弱D和DEL表型RHD基因的外显子中可能存在的变异结果 Rh血型弱D表型个体的第6外显子有845G>A突变，引起RhD蛋白第9个跨膜区域的282Gly>Asp氨基酸的突变，Rh DEL表型个体的第9外显子有1227G>A突变，该突变为沉默突变结论所应用的RHD基因测序方法可以用于弱D和DEL表型分子基础的研究，并为发现新的D变异表型和新的RHD等位基因奠定基础。

关键词: RHD基因弱D表型 DEL表型测序

Abstract: Abstract Objectives To investigate the molecular basis of the Rh weak D and DEL phenotype Methods Weak D and DEL phenotype expression were screened out with an indirect anti-human globulin test(IAT) and absorption elution test.Then the nucleotide sequences of ten exons of weak D and DEL phenotype were evaluated by a RHD gene-specific PCR-SSP and sequencing. Results Indicated that weak D phenotype harbored a RHD 845G >A mutation in exon 6 and harbored a 282Gly>Asp amino acid mutation in the ninth transmembrane and cytoplasmic regions of RhD prtione ,but DEL phenotype harbored a RHD 1227G >A mutation in exon 9 and this mutation is silence. Conclusion The RHD gene sequencing method is established , the molecular basis of weak D and DEL phenotype is characterized ,and this study is the basis for discovering the new D variation phenotypes and new RHD alleles．

Key words: RHD gene weak D phenotype DEL phenotype sequencing

金辉张一兵佟青罗喜钢. Rh血型弱D和DEL表型的基因突变分析[J]. 基础医学与临床, 2012, 32(4): 447-450.