POLYMORPHISMS IN THE 3' UNTRANSLATED REGION OF THE I-KAPPA-B MAD-3 (NFKBI)GENE LOCATED ON CHROMOSOME-14/

The NF-kappa B transcription factor regulates the expression of a numb er of genes, including immune function and growth control loci, and se veral viruses. For example, the long terminal repeat of the human immu nodeficiency virus contains NF-kappa B binding sites. NF-kappa B activ ity in the nucleus is regulated by a cellular inhibitory protein I kap pa B. To analyze the potential role of these genes in genetic disease we have mapped the NF-kappa B (NFKB2) and I kappa B/MAD-3 (NFKBI) loci in a panel of somatic cell hybrids to chromosomes 4 and 14, respectiv ely. Amplification of the 3' untranslated region of NFKBI allows the d etection of three independent polymorphisms within 410 bp. In combinat ion these polymorphisms were informative in 27 of 36 CEPH families and allowed the gene to be placed onto the linkage map of chromosome 14, between the D14S32 and D14S42 markers.