两名抗-Jk3 患者的 Jk 等位基因。

Jk alleles in two patients with anti-Jk3.

机构信息

Austrian Red Cross, Blood Service for Vienna, Lower Austria and Burgenland, Vienna, Austria.

Department of Transfusion Medicine, Paracelsus Medical University Hospital Salzburg, Salzburg, Austria.

出版信息

Blood Transfus. 2021 May;19(3):237-243. doi: 10.2450/2021.0349-20. Epub 2021 Feb 3.

DOI:10.2450/2021.0349-20

PMID:33539287

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8092040/

Abstract

BACKGROUND

As of publication, a total of 41 null alleles have been acknowledged by the International Society of Blood Transfusion (ISBT) to cause the rare Jk phenotype, but none have been discovered in Austria thus far.

MATERIALS AND METHODS

Two patients with anti-Jk3 were serologically identified by a positive antibody screening and typed as Jk(a-b-). The initial genotyping using an SSP-PCR method for the common 838A/G polymorphism indicated a JK02/02, or JK01/02 genotype, respectively. To find the disruptive mutations, Sanger sequencing was performed and results were compared to the reference sequence. The patient's antibodies were characterized with a monocyte monolayer assay (MMA) for their potential clinical significance.

RESULTS

Three novel null-mutations of the SLC14A1 gene were found in two patients. Patient 1 was homozygous for a 10bp deletion in exon 4 (c.157_166del on JK02). Testing of her family members revealed Mendelian inheritance of the deletional allele. The other patient was compound heterozygous for two mutations: one allele carrying a single base deletion in exon 4 (c.267delC on JK01) and the other a splice site mutation in intron 3 (c.152-1g>a on JK*02). The MMA results suggest high clinical significance of the anti-Jk3 in both patients.

DISCUSSION

The detected mutations led to Jk phenotypes and are the first description of JK alleles in the Austrian population.

摘要

背景

截至发表时，国际输血协会（ISBT）共承认了 41 个导致罕见 Jk 表型的无效等位基因，但迄今为止在奥地利尚未发现。

材料和方法

两名抗-Jk3 患者通过抗体筛选阳性被血清学鉴定为 Jk(a-b-)。最初使用 SSP-PCR 方法对常见的 838A/G 多态性进行基因分型，分别指示 JK02/02 或 JK01/02 基因型。为了寻找破坏性突变，进行了 Sanger 测序，并将结果与参考序列进行比较。使用单核细胞单层测定法（MMA）对患者的抗体进行了特征分析，以评估其潜在的临床意义。

结果

在两名患者中发现了 SLC14A1 基因的三个新的无效突变。患者 1 为 4 号外显子的 10bp 缺失纯合子（JK02 的 c.157_166del）。对其家庭成员的检测显示该缺失等位基因的孟德尔遗传。另一名患者为两种突变的复合杂合子：一个等位基因携带 4 号外显子的单个碱基缺失（JK01 的 c.267delC），另一个等位基因携带 3 号内含子的剪接位点突变（JK*02 的 c.152-1g>a）。MMA 结果表明两名患者的抗-Jk3 具有高度的临床意义。