High-resolution analysis of the HLA-A, -B, -C and -DRB1 alleles and national and regional haplotype frequencies based on 120 926 volunteers from the Italian Bone Marrow Donor Registry.

ABSTRACT: HLA genes are highly polymorphic and structurally complex. They are located in the major histocompatibility complex (MHC) on chromosome 6, and the frequency of alleles and haplotypes varies widely among human populations. In this paper, we calculated the allele and haplotype frequencies using the HLA data of more than 120 000 Italian unrelated bone marrow donors enrolled in the national registry (IBMDR) and typed them with a high-resolution (HR) method for the HLA-A, -B, -C and -DRB1 alleles. The allele frequency data were obtained by manual counting; haplotype frequencies were calculated using the expectation maximisation (EM) algorithm. The total numbers of observed alleles were 226 for HLA-A, 343 for HLA-B, 201 for HLA-C and 210 for HLA-DRB1, which account for 5.4%, 6.7%, 5.2% and 8.5%,

SUBMITTER: Sacchi N 

PROVIDER: S-EPMC6771744 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature