Lee S
Lindsley F. Kimball Research Institute, New York Blood Center, NY 10021, USA.
Vox Sang. 1997;73(1):1-11. doi: 10.1046/j.1423-0410.1997.7310001.x.
The molecular basis of different Kell blood group phenotypes is reviewed. Sequence analysis of the Kell gene (KEL) established that single base substitutions, resulting in amino acid changes, are responsible for the different phenotypes. Most of the amino acid substitutions, with the exception of the one responsible for expression of KEL6 (Jsa), occur at the amino-terminal half of the protein, a domain that has least amino acid homology with a family of zinc endopeptidases, which include neutral endopeptidase 24.11 and endothelin-converting enzyme-1. Some of the genes were expressed in transfected cells and typed with alloantibodies to confirm that the identified mutations are responsible for antigen expression. Clinical applications of Kell blood group genotyping which include prenatal diagnosis to monitor hemolytic disease of the newborn are discussed.
本文综述了不同凯尔血型表型的分子基础。对凯尔基因（KEL）的序列分析表明，导致氨基酸变化的单碱基替换是造成不同表型的原因。除了导致KEL6（Jsa）表达的那个替换外，大多数氨基酸替换发生在蛋白质的氨基末端，该区域与锌内肽酶家族的氨基酸同源性最低，锌内肽酶家族包括中性内肽酶24.11和内皮素转换酶-1。部分基因在转染细胞中表达，并用同种抗体进行分型，以确认所鉴定的突变与抗原表达有关。本文还讨论了凯尔血型基因分型的临床应用，包括用于监测新生儿溶血病的产前诊断。
