DQA1 restriction fragment length polymorphisms and insulin-dependent diabetes mellitus: a BglII fragment labels a subset of B8,DR3 haplotypes uniquely associated with insulin-dependent diabetes mellitus.
Class II restriction fragment length polymorphism studies of 38 pedigrees with multiple cases of insulin-dependent diabetes mellitus revealed the existence of a DQA1-related polymorphism that distinguishes two kinds of HLA-B8,DR3 haplotypes. One of these, characterized by the presence of DQA1-BglII 7.20 kb, was present in all 14 examples inherited by patients and in 6 of the 12 B8,DR3 haplotypes not so inherited. The apparently complete association between the presence of this fragment and the "affected" status of B8,DR3 haplotypes (p = 0.004) was confirmed in a separate group of 26 simplex pedigrees selected for the presence of this haplotype in the respective probands (combined p less than 0.0001).
Carrier
C
C
Fred H. Allen Laboratory of Immunogenetics, Lindsley F. Kimball Research Institute, New York Blood Center, NY 10021.
Mollen
N
N
Ginsberg-Fellner
F
F
Rothman
W C
WC
Rubinstein
P
P
D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D015795:HLA-B8 Antigen / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D015803:HLA-DR3 Antigen / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length
D015795:HLA-B8 Antigen; D006683:HLA-DQ Antigens; C051568:HLA-DQ1 antigen; D015803:HLA-DR3 Antigen