DNA sequence analysis of Jk(a-b-) phenotype of blood donors from Chengdu / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the molecular genetics characteristics of Jk(a-b-) phenotype of blood donors from Chengdu.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>