Novel human leukocyte antigen class I and class II alleles identified by sequence-based typing in the Genetics of Kidneys in Diabetes (GoKinD) study population.
Nine novel HLA class I and class II alleles were identified by sequence-based typing (SBT) in Caucasian participants from the Genetics of Kidneys in Diabetes (GoKinD) study. All novel alleles were single nucleotide substitutions. Seven alleles resulted in an amino acid change and two alleles were silent substitutions. The new alleles are as follows: five HLA-A alleles (*0132, *020121, *0344, *030107, *2507), one HLA-C allele (*0619), two HLA-DQB1 alleles (*0204, *0318), and one HLA-DPB1 allele (*1802). Eight of these new alleles were identified in participants with type 1 diabetes, three of whom also had diabetic nephropathy, and one new allele was identified in an unaffected parent of a participant with type 1 diabetes. All new alleles were isolated and characterized by use of single allele amplification (SAA) SBT; the new alleles were confirmed by sequence-specific primer (SSP) amplification.
Cordovado
Suzanne Kehoe
SK
Division of Laboratory Sciences, Newborn Screening and Molecular Biology Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia, USA. snc4@cdc.gov
Hancock
Laura N
LN
Hendrix
Miyono
M
Greene
Christopher N
CN
Mueller
Patricia W
PW
D000483:Alleles; D002170:Canada; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D005787:Gene Frequency; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics; D015236:HLA-C Antigens / Q000235:genetics; D006682:HLA-DP Antigens / Q000235:genetics; D059868:HLA-DP beta-Chains; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006801:Humans; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014481:United States
D015234:HLA-A Antigens; D015236:HLA-C Antigens; D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen