Polymorphism of SLC14A1 encoding human erythrocytic Kidd antigens in the Chinese population
  
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DOI:10.46701/APJBG.2017042017056
KeyWord:polymorphism, SLC14A1, human erythrocytic antigens, Kidd
                 
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Haochun Chang Department of Clinical Medicine, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China; Nobel Prize Medicine Research Institute, Jiangsu ZhongJi WanTai Biological Pharmacetiual Co., Ltd., Jiangyin, Jiangsu, 214400, China; The United Reference Laboratory for Blood Group Gene Detection, Jiangsu Libo Medicine Biotechnology Co., Ltd., Jiangyin, Jiangsu, 214400, China.
Hsin-Wan Chen Department of Clinical Medicine, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.
Chen Cao Nobel Prize Medicine Research Institute, Jiangsu ZhongJi WanTai Biological Pharmacetiual Co., Ltd., Jiangyin, Jiangsu, 214400, China; The United Reference Laboratory for Blood Group Gene Detection, Jiangsu Libo Medicine Biotechnology Co., Ltd., Jiangyin, Jiangsu, 214400, China.
Xiaojie Zhu Nobel Prize Medicine Research Institute, Jiangsu ZhongJi WanTai Biological Pharmacetiual Co., Ltd., Jiangyin, Jiangsu, 214400, China; The United Reference Laboratory for Blood Group Gene Detection, Jiangsu Libo Medicine Biotechnology Co., Ltd., Jiangyin, Jiangsu, 214400, China.
Zhenzhen Zhou Nobel Prize Medicine Research Institute, Jiangsu ZhongJi WanTai Biological Pharmacetiual Co., Ltd., Jiangyin, Jiangsu, 214400, China.
Yu-Shiang Lin Department of Clinical Medicine, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China; Nobel Prize Medicine Research Institute, Jiangsu ZhongJi WanTai Biological Pharmacetiual Co., Ltd., Jiangyin, Jiangsu, 214400, China; The United Reference Laboratory for Blood Group Gene Detection, Jiangsu Libo Medicine Biotechnology Co., Ltd., Jiangyin, Jiangsu, 214400, China.
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Abstract:
      The SLC14A1 gene, which encodes the important Kidd blood group antigens, has not been systematically?analyzed at the molecular level in Chinese individuals. In this study, SLC14A1 genetic polymorphism was examined in Chinese individuals with Jk(a+b-), Jk(a+b+), and Jk(a-b+) expression. The Kidd phenotype was determined for 146 specimens using monoclonal anti-Jka and -Jkb antibodies. From these, 87 specimens were Jk(a-b+), 21 were Jk(a+b-), and 38 were Jk(a+b+). According to the Kidd phenotype results, 20 specimens were randomly selected from each group, i.e., Jk(a-b+), Jk(a+b-), and Jk(a+b+), for the molecular analyses of exons 3 to 11 of the SLC14A1 gene. Novel alleles were detected in the SLC14A1 gene, including IVS3-106A, IVS3-99A, exon3 130G, IVS4-299G, IVS4-293G, IVS4+211C, IVS4 +230C, exon6 499A, exon6 588A, IVS7-68T, IVS9+244G, and IVS10-153T, indicating that the locus harbored significant polymorphism. We also showed that IVS4-299, IVS7-68, and IVS10-153 were novel SNPs absolutely associated with exon 8 nt. 838. The minor allele frequencies were all greater than 10% and all SNPs in the Chinese population showed Vel antigen expression on RBC membranes. We identified 12 SNPs in the SLC14A1 gene in the Chinese population, IVS3-106A, IVS3-99A, exon3 130G, IVS4-299G, IVS4-293G, IVS4+211C, IVS4 +230C, exon6 499A, exon6 588A, IVS7-68T, IVS9+244G, and IVS10-153T. Our results also indicated that three novel SNPs produced Jka and Jkb antigens in Chinese individuals.
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