Polymorphic restriction endonuclease fragment segregates and correlates with the gene for HLA-B8.

Cellular DNA from HLA-typed individuals was digested with the restriction endonuclease EcoRV. After electrophoresis and transfer to a hybridization membrane, the restriction endonuclease fragments were probed with cDNA carrying the nucleotide sequence encoding a class 1 HLA gene. Polymorphism for presence or absence of various EcoRV fragments was noted in a panel of unrelated HLA-typed individuals. A polymorphic 8.6-kilobase pair EcoRV fragment was found which correlated in the panel with the serologically defined gene HLA-B8. A family study revealed that this fragment segregated with the haplotype carrying the HLA-B8 gene. This fragment may carry the gene for HLA-B8 or it may represent another class 1 gene (or pseudogene) in linkage disequilibrium with HLA-B8.