Hong Ying, Gong Tian-xiang, Zhou Chang-hua
Blood Research Laboratory, Chengdu Blood Center, Chengdu, Sichuan, 610041 P R China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):697-700. doi: 10.3760/cma.j.issn.1003-9406.2012.06.016.
To study the molecular genetics characteristics of Jk(a-b-) phenotype of blood donors from Chengdu.
Exons 4-11 of the JK genes and their flanking intronic regions for 8 Jk(a-b-) samples were analyzed with PCR-sequence specific primers (PCR-SSP) and DNA sequencing.
All samples had AA genotype at position 838 of exon 9 predicting a null Jk(b)-like alleles. Sequence analysis has revealed 4 mutant alleles, which included: (1) IVS5-1G>A, A to G at position 588 (Pro196Pro) of exon 7; (2) G to A at position 896 (Gly299Glu) of exon 9, A to G at position 588 (Pro196Pro) of exon 7; (3) IVS5-1G>A, C>A at position 222 (Asn74Lys) of exon 5, A to G at position 499 (Met167Val) of exon 7, A to G at position 588 (Pro196Pro) of exon 7; and (4) IVS5-1G>A, G to A at position 896 (Gly299Glu) of exon 9, A to G at position 588 (Pro196Pro) of exon 7.
IVS5-1G>A, C to A at position 222 (Asn74Lys) of exon 5 and G to A at position 896 (Gly299Glu) of exon 9 might have been the molecular genetic mechanisms underlying Jk(a-b-) phenotype of the selected blood donors.
研究成都地区献血者Jk(a-b-)血型表型的分子遗传学特征。
采用聚合酶链反应-序列特异性引物（PCR-SSP）及DNA测序技术，对8例Jk(a-b-)样本的JK基因第4-11外显子及其侧翼内含子区域进行分析。
所有样本在第9外显子838位均为AA基因型，预测为无效Jk(b)样等位基因。序列分析发现4种突变等位基因，包括：（1）第7外显子588位（Pro196Pro）的IVS5-1G>A，A突变为G；（2）第9外显子896位（Gly299Glu）的G突变为A，第7外显子588位（Pro196Pro）的A突变为G；（3）第5外显子222位（Asn74Lys）的IVS5-1G>A，C突变为A，第7外显子499位（Met167Val）的A突变为G，第7外显子588位（Pro196Pro）的A突变为G；（4）第9外显子896位（Gly299Glu）的IVS5-1G>A，G突变为A，第7外显子588位（Pro196Pro）的A突变为G。
第5外显子222位（Asn74Lys）的IVS5-1G>A、C突变为A以及第9外显子896位（Gly299Glu） 的G突变为A可能是所选取献血者Jk(a-b-)血型表型的分子遗传机制。
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