Liang Shuang, Su Yu-Qing, Liang Yan-Lian, Wu Fan, Zhang Hao, Hong Wen-Xu
Shenzhen Blood Center, Shenzhen 518035, Guangdong Province, China.
Shenzhen Blood Center, Shenzhen 518035, Guangdong Province, China,Shenzhen Research Institute of Population and Family Planning, Shenzhen 518040, Guangdong Province, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):300-306. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.050.
To study the single nucleotide polymorphisms (SNPs) in promoter region of the Jk gene and its allele frequency as well as distribution characteristics in the Chinese Han nationality population.
127 blood samples containing 8 Jk(a-b-) and 119 samples (as control) taken randomly from voluntary blood donors of Chinese Han nationality persons in Shenzhen Blood Center were collected. The Kidd phenotypes were identified by using the serologic test and urea hemolysis test; the Jk promoter, exon 1-11 region and respective flanking area were amplified and sequenced, then the sequence information was analyzed.
8 Jk(a-b-) samples all carried JkB/JkB allele which belongs to 2 kind of Jk genotypes commonly observed in Chinese Han nationality population. 6 IVS5-1g>a and 2 896G>A were found in 8 Jk(a-b-) samples. Besides, all Jk(a-b-) samples were homozygous for JkB/JkB allele. Three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene were found and sequenceds calculation of allele and genotype frequencies showed that the result accorded with Hardy-Weinberg equilibrium, indicating that the population in this study possesses representative characteristics of the Chinese Han nationality population.
The polymorphism of the Jk gene occurs in promoter region. This study calculates the allele frequencies of three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene, and shows their distribution characteristics in distinct Kidd phenotypes. These findings provide the basic foundation for further population genetics research.
研究Jk基因启动子区域的单核苷酸多态性（SNP）及其等位基因频率，以及在中国汉族人群中的分布特征。
采集深圳血液中心127份汉族无偿献血者的血样，其中8份为Jk(a-b-)血样，119份为随机抽取的对照血样。采用血清学试验和尿素溶血试验鉴定基德血型；对Jk启动子、外显子1-11区域及其侧翼区域进行扩增和测序，然后对序列信息进行分析。
8份Jk(a-b-)血样均携带JkB/JkB等位基因，属于中国汉族人群中常见的2种Jk基因型。在8份Jk(a-b-)血样中发现6例IVS5-1g>a和2例896G>A。此外，所有Jk(a-b-)血样均为JkB/JkB等位基因纯合子。在Jk基因启动子区域发现3个SNP，分别为-110(rs900974)、-160(rs1484877)和-258(rs1484878)，并进行了测序，等位基因和基因型频率计算结果符合哈迪-温伯格平衡，表明本研究中的人群具有中国汉族人群的代表性特征。
Jk基因多态性发生在启动子区域。本研究计算了Jk基因启动子区域3个SNP，即-110(rs900974)、-160(rs1484877)和-258(rs1484878)的等位基因频率，并展示了它们在不同基德血型中的分布特征。这些发现为进一步的群体遗传学研究提供了基础。
