Molecular genetic analysis of the Jk(a−b−) phenotype in Chinese: A novel silent recessive JK allele
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- 作者：Ai Zhang<sup>asup><sup> ; sup><sup>za_guo@163.com.cn" class="auth_mail" title="E-mail the corresponding authorsup> ; Quan Chi<sup>asup><sup> ; sup><sup>bsup><sup> ; sup><sup>baisui0@163.com.cn" class="auth_mail" title="E-mail the corresponding authorsup> ; Hongkeng Lin<sup>asup> ; Yimin She<sup>asup>
- 关键词：Jk(a&minus ; b&minus ; ) phenotype ; Kidd blood group ; SLC14A1 gene
- 刊名：Transfusion and Apheresis Science
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：54
- 期：2
- 页码：232-234
- 全文大小：395 K
文摘
The Jk(a−b−) phenotype, referred to as Jk<sub>nullsub>, 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 Jk<sub>nullsub> 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 Jk<sub>nullsub> samples to determine their molecular bases. In addition to the well known Polynesian Jk<sub>nullsub> allele, three Jk<sub>nullsub> alleles were detected including one novel Jk<sub>nullsub> allele: JKA (130A, 220G).