02517nas a2200481 4500000000100000008004100001260001600042653001200058653001800070653002100088653003000109653003500139653003100174653001600205653001000221653001100231653001100242653002600253653000900279653002200288653000900310653002800319653001300347653002600360653001600386653002700402653003000429653003900459100001400498700001300512700001500525700001700540700001500557700001300572700001500585700001600600700001800616245014300634300001200777490000700789520122500796022001402021 1994 d c1994 Nov 1510aAnimals10aBase Sequence10aCarrier Proteins10aCation Transport Proteins10aChromosomes, Artificial, Yeast10aChromosomes, Human, Pair 210aDNA Primers10aExons10aFemale10aHumans10aIron-Binding Proteins10aMale10aMembrane Proteins10aMice10aMolecular Sequence Data10aPedigree10aPolymorphism, Genetic10aPseudogenes10aReceptors, Interleukin10aReceptors, Interleukin-8A10aRepetitive Sequences, Nucleic Acid1 aWhite J K1 aShaw M A1 aBarton C H1 aCerretti D P1 aWilliams H1 aMock B A1 aCarter N P1 aPeacock C S1 aBlackwell J M00aGenetic and physical mapping of 2q35 in the region of the NRAMP and IL8R genes: identification of a polymorphic repeat in exon 2 of NRAMP. a295-3020 v243 a

Recent interest has focused on the region of conserved synteny between mouse chromosome 1 and human 2q33-q37, particularly over the region encoding the murine macrophage resistance gene Ity/Lsh/Bcg (candidate Nramp) and members of the Il8r interleukin-8 (IL8) receptor gene cluster. In this paper, identification of a restriction fragment length polymorphism in the IL8RB gene in 35 pedigrees previously typed for markers in the 2q33-q37 interval provided evidence (lod scores > 3) for linkage between IL8RB and the 2q34-q35 markers FN1, TNP1, VIL1, and DES. Physical mapping, using yeast artificial chromosomes isolated with VIL1, confirmed that IL8RA, IL8RB, and the IL8RB pseudogene map within the NRAMP-VIL1 interval, with the physical distance (155 kb) from 5' LSH to 3' VIL1 representing approximately 3-fold that observed in the mouse. Partial sequencing of NRAMP confirmed the presence of the N-terminal proline/serine-rich putative SH3 binding domain in exon 2 of the human gene. Further analysis of Brazilian leprosy and visceral leishmaniasis pedigrees identified a rare second allele varying in a 9-nucleotide repeat motif of the exon 2 sequence but segregating independently of the disease phenotype.

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