中国人Jk(a-b-)血型表型的分子遗传学分析：一种新的沉默隐性JK等位基因

Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.

作者信息

Zhang Ai, Chi Quan, Lin Hongkeng, She Yimin

机构信息

Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China.

Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China; Department of Transfusion Medicine, Fujian Medical University, Fuzhou 350004, Fujian, China.

出版信息

Transfus Apher Sci. 2016 Apr;54(2):232-4. doi: 10.1016/j.transci.2015.04.014. Epub 2015 Apr 20.

DOI:10.1016/j.transci.2015.04.014

PMID:26969102

Abstract

The Jk(a-b-) phenotype, referred to as Jknull, is rare in most populations. This blood type is characterized by the absence of Kidd glycoprotein on the surface of red blood cells (RBCs) and moderately reduced ability to concentrate urine. The molecular basis for Jknull phenotype includes splice-site mutations, missense mutations, and a partial gene deletion in the JK(SLC14A1) gene that encodes the human urea transporter protein. In this study, we have analyzed 10 Chinese Jknull samples to determine their molecular bases. In addition to the well known Polynesian Jknull allele, three Jknull alleles were detected including one novel Jknull allele: JKA (130A, 220G).

摘要

Jk(a-b-) 表型，即所谓的Jk缺失型，在大多数人群中较为罕见。这种血型的特征是红细胞（RBC）表面缺乏基德糖蛋白，且浓缩尿液的能力略有下降。Jk缺失型表型的分子基础包括剪接位点突变、错义突变以及编码人尿素转运蛋白的JK（SLC14A1）基因中的部分基因缺失。在本研究中，我们分析了10例中国Jk缺失型样本以确定其分子基础。除了众所周知的波利尼西亚Jk缺失型等位基因外，还检测到三个Jk缺失型等位基因，其中包括一个新的Jk缺失型等位基因：JKA（130A，220G）。