Diversity associated with the second expressed H
L
A
-
D
R
B locus in the human population |
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Authors: | FuMeei Robbins Carolyn Katovich Hurley Ting Tang Hanlong Yao Y S Lin Judy Wade Nancy Goeken Robert J Hartzman |
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Institution: | (1) Naval Medical Research Institute, Bethesda MD 20889, USA, US;(2) Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007, USA, US;(3) Department of Microbiology and Immunology, Georgetown University Medical Center, 3970 Reservoir Rd. NW, Washington, DC 20007, USA, US;(4) Regional Histocompatibility Laboratory, University of Toronto, Toronto, Ontario M5G 2M1, Canada, CA;(5) VA Medical Center, University of Iowa, Iowa City, IA 52246, USA, US |
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Abstract: | Although diversity within the HLA-DRB region is predominantly focused in the DRB1 gene, the second expressed DRB loci, DRB3, DRB4, and DRB5, also exhibit variation. Within DRB1
*
15 or DRB1
*
16 haplotypes, four new variants were identified: 1) two new DRB5 alleles, DRB5
*
0104 and DRB5
*
0204, 2) a haplotype carrying a DRB1
*
15 or
*
16 allele without the usual accompanying DRB5 allele, and 3) a haplotype carrying a DRB5*
0101 allele without a DRB1
*
15 or
*
16 allele. The evolutionary origins of these haplotypes were postulated based on their associations with the DRB6 pseudogene. Within HLA haplotypes which carry DRB3, a new DRB3
*
0205 allele and one unusual DRB3 association were identified. Finally, two new null DRB4 alleles are described: DRB4
*
0201N, which exhibits a deletion in the second exon, and a second allele, DRB4
*
null, which lacks the second exon completely. Gene conversion-like events and variation in the number of functional genes through
reciprocal recombination and inactivation contribute to the diversity observed in the second expressed HLA-DRB loci.
Received: 2 November 1996 / Revised: 23 December 1996 |
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Keywords: | |
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