Author/Editor     Glavač, D; Ravnik-Glavač, M; O'Brien, SJ; Dean, M
Title     Polymorphisms in the 3' untranslated region of the I kappa B/MAD-3 (NFKBI) gene located on chromosome 14
Type     članek
Source     Hum Genet
Vol. and No.     Letnik 93, št. 6
Publication year     1994
Volume     str. 694-6
Language     eng
Abstract     The NF-kappa B transcription factor regulates the expression of a number of genes, including immune function and growth control loci, and several viruses. For example, the long terminal repeat of the human immunodeficiency virus contains NF-kappa B binding sites. NF-kappa B activity in the nucleus is regulated by a cellular inhibitory protein I kappa 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, respectively. Amplification of the 3' untranslated region of NFKBI allows the detection of three independent polymorphisms within 410 bp. In combination 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.
Descriptors     CHROMOSOMES, HUMAN, PAIR 14
DNA-BINDING PROTEINS
NF-KAPPA B
POLYMORPHISM (GENETICS)
TRANSLATION, GENETIC
BASE SEQUENCE
DNA PRIMERS
LINKAGE (GENETICS)
MOLECULAR SEQUENCE DATA