Diversity associated with the second expressed H L A - D R B locus in the human population

Autor: Nancy E. Goeken, Robert J. Hartzman, Fu-Meei Robbins, Carolyn Katovich Hurley, Hanlong Yao, Yu Su Lin, Ting Tang, Judy Wade
Rok vydání: 1997
Předmět:
Zdroj: Immunogenetics. 46:104-110
ISSN: 1432-1211
0093-7711
DOI: 10.1007/s002510050248
Popis: 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.
Databáze: OpenAIRE
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