The KEL24 and KEL14 alleles of the Kell blood group system

Lee, S; Naime, D; Reid, Marin E.; Redman, Colvin M.

doi:10.1046/j.1537-2995.1997.371098016441.x

Cited by 10 publications

(4 citation statements)

References 7 publications

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“…Recent molecular analyses indicated that these polymorphisms are due to unsynonymous base substitutions of the KEL gene (Lee, 1997). A series of Kell antigens expressed antithetically with high and low frequencies, such as KEL2 (k)/KEL1 (K), KEL4 (Kp b )/KEL3 (Kp a )/KEL21 (Kp c ), KEL7 (Js b )/KEL6 (Js a ), KEL11/KEL17 and KEL14/KEL24 (Lee et al , 1995b,c, 1996, 1997a,b). The frequencies of some Kell antigens show ethnic differences.…”

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Heterozygosity for two novel null alleles of the KEL gene causes the Kell‐null phenotype in a Japanese woman

et al. 2002

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Summary. The Kell-null (Ko) phenotype is rare and it does not express the Kell antigens on erythrocyte membranes. Recently, several distinct missense and nonsense base substitutions in the coding region and the donor splice site of intron 3 were identified in the KEL gene in individuals with the Ko phenotype. We analysed both genomic DNA and cDNA sequences of the KEL gene in a Japanese woman with the Ko phenotype. She was found to be heterozygous for two novel null KEL alleles. One allele contained an A to G substitution in intron 5 that changes the 3¢-splice site of intron 5 from AAG to AGG, resulting in a reading frameshift by a single guanine insertion in KEL mRNA, and the other allele contained a single G to A substitution in exon 12 (codon 459) creating a termination codon. Neither mutation was found in 114 randomly selected Japanese individuals. The results suggested that the Ko blood group phenotype might be owing to several distinct non-functional alleles without any prevalent allele.

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confidence: 99%

Heterozygosity for two novel null alleles of the KEL gene causes the Kell‐null phenotype in a Japanese woman

et al. 2002

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“…MnlI+/-DdeI+/-KEL11/KEL17(Wk a ) 13 8 1025T>C V302A HaeIII-/+ KEL10-(Ul a -)/KEL10+(Ul a +) 13 13 E494V AccI-/+ KEL12+/KEL12- 50 15 1763A>G H548R NlaIII+/-KEL13+/KEL13-(Kmod) 11,21,22 9 1106T>C L329P KEL14/KEL24 51 6 659G>C R180P HaeIII-/+ KEL18+/KEL18- 50 4 4…”

Section: R281w R281qunclassified

Kell and Kx Blood Group Systems

Daniels

2013

Human Blood Groups

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Kell is a major human blood group system that is highly polymorphic, and at present it is known to express 28 different alloantigens. After the ABO and Rh systems, Kell is the most important blood group system in transfusion medicine, as some of the antigens are potent immunogens and their antibodies can cause severe transfusion reactions in mismatched blood transfusions and fetal anemia in feto-maternal incompatible pregnancies.The Kx blood group system is composed of a single antigen, Kx, which is carried on the XK protein. This system is important clinically because absence of XK protein, found in rare McLeod phenotypes, leads to red blood cell (RBC) acanthocytosis and to late onset abnormalities, usually commencing about midlife, involving the peripheral and central nervous systems, known as the McLeod syndrome.

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“…HaeIII-/+ KEL10-(Ul a -)/KEL10+(Ul a +) 13 13 1601A>T E494V AccI-/+ KEL12+/KEL12- 50 15 1763A>G H548R NlaIII+/-KEL13+/KEL13-(Kmod) 11,21,22 9 1106T>C L329P KEL14/KEL24 51 6 659G>C R180P…”

Section: T>c 2019a>gmentioning

confidence: 99%