The mutation spectrum of the JK-null phenotype in the Chinese population

The mutation spectrum of the JK-null phenotype in the Chinese population

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...

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Bibliographic Details
Published in:Transfusion (Philadelphia, Pa.) Vol. 53; no. 3; pp. 545 - 553
Main Authors: Guo, Zhonghui, Wang, Chen, Yan, Kangfeng, Xie, Jingwen, Shen, Wei, Li, Qin, Zhang, Jiamin, Ye, Luyi, Zhu, Ziyan
Format: Journal Article
Language:English
Published: Malden, USA Blackwell Publishing Inc 01-03-2013
Wiley
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Subjects:
Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy
Asian Continental Ancestry Group - genetics
Base Sequence
Biological and medical sciences
Blood
Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis
DNA Mutational Analysis
Family
Female
Gene Deletion
Genetics
Genetics, Population
Genotype
Genotype & phenotype
Humans
Kidd Blood-Group System - genetics
Male
Medical sciences
Mutation
Mutation - physiology
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Population - genetics
Transfusions. Complications. Transfusion reactions. Cell and gene therapy
Asia
China
Human
Phenotype
Transfusion
Mutation
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Summary: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 MnlI 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.
Bibliography:istex:5C4C604EC83D620BF114F329D50EBC190C546351
ArticleID:TRF3750
ark:/67375/WNG-3Q6GJJ50-G
This work was supported by a grant from Shanghai Health Bureau of the P.R. China (Project 211104).
ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
ISSN:0041-1132
1537-2995
DOI:10.1111/j.1537-2995.2012.03750.x