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由新基删除和全面的血统分析引起的Rh_null血型

Zhu Xiaoli¹, Qi Xi¹, Gao Hongjun²

¹Department of Transfusion Medicine, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou 225300, Jiangsu, China.

International immunopharmacology

|January 4, 2025

概括

一个新的RHAG基因突变导致了一个试验中的RH_null血型. 这种同卵性框架转移突变导致非功能性RHAG蛋白,影响RH抗原表达.

科学领域:

遗传学是一个遗传学.
血液学血液学血液学
分子生物学分子生物学

背景情况:

红血小组系统对于输血兼容性至关重要.
RH_null表型是一种罕见的疾病,其特征是所有RH抗原都不存在.
RH_null的遗传基础是复杂的,需要详细的研究.

研究的目的:

在试验中确定RH_null血型的遗传原因.
为了分析家庭成员的RH血型基因.
了解RH抗原表达的分子机制.

主要方法:

对RH血液组表型的血清测试.
在RHCE基因定型.
在RHD和RHCE基因测序中.
在RHAG外基子测序.
在家庭成员中进行比较分析.

主要成果:

测试物被鉴定为具有CcDEe基因型和RH_null表型.
在RHAG外体5中发现的新型同卵性框架转移突变 (c.732delC).
突变导致RHAG蛋白的过早终止 (p.Phe245Serfs*16).
普罗班德的妹妹共享了相同的遗传发现;儿子显示异合突变.

结论:

在这种情况下,一种新的RHAG突变 (c.732delC) 是RH_null表型的原因.
同胞性框架转移突变导致一个非功能性的RHAG蛋白.
干扰RHAG会影响其他RH抗原的表达,导致RH_null表型.

关键词:

长子子序列测序长子序列测序同卵同卵的框架转移突变.RH ((null) 是一个无效的值.这就是RHAG基因.这是一种RHAG蛋白质.

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