Lee S, Reid M E, Redman C M
Lindsley F. Kimball Research Institute of the New York Blood Center, 310 East 67th Street, New York, NY 10021, USA.
Vox Sang. 2001 Nov;81(4):259-63. doi: 10.1046/j.1423-0410.2001.00119.x.
The molecular basis of two Kell blood group antigens, RAZ (provisionally KEL27) and VLAN (KEL25), were determined.
The DNA sequences of the open reading frames and the flanking intron regions of the 19 KEL exons from RAZ and VLAN probands were compared with that of common KEL. Genotyping assays were designed to confirm and detect RAZ and VLAN phenotypes.
A homozygous G865A mutation, encoding lysine instead of glutamic acid at amino acid position 249 of Kell protein, defines the RAZ phenotype, while a heterozygous G863A mutation in KEL, encoding an arginine to glutamine substitution at amino acid 248, characterizes the VLAN phenotype.
Point mutations G865A and G863A, in adjacent codons of KEL exon 8, which cause amino acid substitutions, characterize the RAZ and VLAN Kell blood group phenotypes.
确定两种凯尔血型抗原RAZ（暂定为KEL27）和VLAN（KEL25）的分子基础。
将来自RAZ和VLAN先证者的19个KEL外显子的开放阅读框及其侧翼内含子区域的DNA序列与常见KEL的序列进行比较。设计基因分型检测以确认和检测RAZ和VLAN表型。
一个纯合的G865A突变，在凯尔蛋白的第249位氨基酸处编码赖氨酸而非谷氨酸，定义了RAZ表型，而KEL中的一个杂合G863A突变，在第248位氨基酸处编码精氨酸到谷氨酰胺的替换，是VLAN表型的特征。
KEL外显子8相邻密码子中的点突变G865A和G863A导致氨基酸替换，是RAZ和VLAN凯尔血型表型的特征。
