DNA sequence analysis of Jk(a-b-) phenotype of blood donors from Chengdu.
- Author:
Ying HONG
1
;
Tian-xiang GONG
;
Chang-hua ZHOU
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Base Sequence; Blood Donors; China; Exons; Genotype; Humans; Introns; Kidd Blood-Group System; genetics; Mutation; Phenotype
- From: Chinese Journal of Medical Genetics 2012;29(6):697-700
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the molecular genetics characteristics of Jk(a-b-) phenotype of blood donors from Chengdu.
METHODSExons 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.
RESULTSAll 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.
CONCLUSIONIVS5-1G>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.
