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The mutation spectrum of the JK‐null phenotype in the Chinese population
Author(s) -
Guo Zhonghui,
Wang Chen,
Yan Kangfeng,
Xie Jingwen,
Shen Wei,
Li Qin,
Zhang Jiamin,
Ye Luyi,
Zhu Ziyan
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2012.03750.x
Subject(s) - null allele , biology , genetics , allele , population , microbiology and biotechnology , phenotype , exon , gene , medicine , environmental health
BACKGROUND: This study aimed to analyze the mutation spectrum of the JK‐null phenotype in the Chinese population. The JK gene encoding the Kidd blood group antigen protein and JK * A/JK * B polymorphism caused by a G‐to‐A mutation at nt838 are well described. However, the molecular basis of the JK‐null phenotype in Chinese populations remains unclear. STUDY DESIGN AND METHODS: Sixteen unrelated JK‐null phenotype donors detected by red blood cell urea lysis resistance assay of 201,194 Chinese blood donors were confirmed in serologic agglutination tests. JK ‐null alleles were analyzed by Mnl I polymerase chain reaction–restriction fragment length polymorphism and sequencing of all JK gene coding regions. RESULTS: In addition to the well‐known Polynesian JK ‐null allele JK * B(IVS5‐1g>a) and two alleles discovered in Taiwan, JK * B(896G>A) and JK * B(222C>A) , seven JK ‐null allele types were detected in this study including four novel JK ‐null alleles: a nonsense mutation, JK * B(512G>A) ; two types of missense point mutations, JK * B(536C>G) and JK * B(437T>C) ; and a splice mutation, JK * A(IVS8+5g>a) , resulting in skipping of Exon 8. CONCLUSION: This study demonstrates the frequency and heterogeneity of the JK‐null phenotype in Chinese populations. Based on our findings, the mechanisms underlying the Chinese Jk(a−b−) phenotype are quite different from other ethnic groups. The two most common types of JK ‐null alleles were JK * B(IVS5‐1g>a) and JK * B(896G>A) in Chinese persons. Four novel JK ‐null alleles were noted to be associated with the Jk(a−b−) phenotype.