title: Characterization of the HLA-C*07:01:01G allele group in European and African-American cohorts.
abstract: The HLA-C*07:01:01G allele group consists of three nonsynonymous alleles, C*07:01:01, C*07:06 and C*07:18, plus C*07:01:02, which is synonymous to C*07:01:01. All of these alleles have identical exons 2, 3 and 4, but differ in exons 5 or 6. Therefore routine sequence-based typing (SBT) of exons 2 and 3 is unable to resolve these subtypes, resulting in ambiguous typing results in population and disease cohort studies. In the present study, we fully characterized C*07:01:01G subtypes in European and African Americans and examined their relative frequency distributions. In European Americans C*07:01:01G is predominantly represented by C*07:01:01 (94.4%), whereas C*07:01:02 (1.1%) and C*07:18 (4.5%) were detected relatively infrequently. In African Americans C*07:18 (42.4%) showed a high frequency similar to that of C*07:01:01 (44.7%) whereas C*07:06 was detected at a low frequency (4.7%). C*07:06 was found exclusively on B*44:03 carrying haplotypes in both ethnic groups, but C*07:18 showed multiple linkage relationships with HLA-B. These results demonstrate that C*07:01:01G as defined by routine SBT is a heterogeneous group of alleles, especially among individuals of African origin. If C*07:01:01G subtypes prove to bear divergent functional significance, it would be necessary to include these subtypes in routine HLA-C typing for clinical transplantation and disease association studies.
authors.affiliation: Immunogenetics Laboratory, Shenzhen Blood Center, Shenzhen, Guangdong 518035, China.
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Deng
authors.forename: Xiaojiang
authors.initials: X
authors.lastname: Gao
authors.forename: Gregory D
authors.initials: GD
authors.lastname: Kirk
authors.forename: Steven
authors.initials: S
authors.lastname: Wolinsky
authors.forename: Mary
authors.initials: M
authors.lastname: Carrington
mesh_terms: D001741:Black or African American; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015236:HLA-C Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D015810:Linkage Disequilibrium; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic; D044465:White People
chemical_list: D015236:HLA-C Antigens