Y. Shinohara et al., Novel single nucleotide polymorphisms of the human nuclear factor kappa-B 2 gene identified by sequencing the entire gene, J HUM GENET, 46(1), 2001, pp. 50-51
The nuclear factor kappa-B 2 (NFKB2) gene is a member of the NFKB/Rel gene
family, which is known to be a pivotal regulator of the acute phase of the
inflammatory response and of immune responses. We identified three novel si
ngle nucleotide polymorphisms (SNPs) and determined their allelic frequenci
es, as determined by the sequencing of 48 alleles of the entire: gene in a
Japanese population sample. Two Of the three polymorphisms were identified
at nucleotide (nt) position 1837 (T/C) and nt position. 1867 (GG/G) in the
upstream region of the gene. The other polymorphism was identified at nt po
sition 2584 (G/T) within intron 1. These polymorphisms will be useful in ge
netic studies of the processes involved in inflammatory responses and in bo
ne differentiation.