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PubMed ID:
16690412
Public Release Type:
Journal
Publication Year: 2005
Affiliation: Division of Laboratory Sciences, Molecular Biology Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, 4770 Buford Highway, MS F-50, Atlanta, Georgia 30341, USA.
DOI:
https://doi.org/10.1016/j.humimm.2005.08.239
Authors:
Mueller PW,
Simone AE,
Hendrix M,
Cordovado SK,
Hancock LN
Studies:
The Genetics of Kidneys in Diabetes
Two novel DQA1 alleles, DQA1*0107 and DQA1*0602, were discovered using DQA1 sequence-based typing (SBT) in participants in the Genetics of Kidneys in Diabetes (GoKinD) Study. The DQA1*0107 allele, found in three unrelated Caucasian participants, contains a novel polymorphism at codon 79 of exon 2 (CGC-->TGC), which results in an amino acid change from an arginine to a cysteine. The participants containing this novel polymorphism also had a 1-bp insertion in intron 2 that is common to the *01 alleles. The DQA1*0602 allele, found in one Caucasian participant, contains a novel polymorphism at codon 139 of exon 3 (AGC-->CGC), which results in an amino acid change from a serine to an arginine. Additionally, the *0602 allele has a base change in intron 1 that is common to the *06 alleles. Both new alleles were isolated using single-allele amplification SBT and confirmed using sequence-specific primer amplification.
