Abstract
The discoveries of HLA associations with certain diseases have been a major breakthrough in our understanding of the genetics of these diseases. We now know that at least part of the genetic basis of the associated diseases lies in the HLA region of chromosome 6. Furthermore, the “disease susceptibility genes” for hemochromatosis, congenital adrenal hyperplasia, and olivopontocerebellar ataxia (Menzel type) are known to be in linkage with HLA and have been mapped on chromosome 6.1 HLA markers are already providing some useful clinical information regarding these diseases (for references see the individual sections on these diseases). However, it is interesting to note that in the beginning these HLA associations generated high hopes and enthusiasm that the etiology of these diseases will soon be resolved. Yet, surprisingly, a decade after the landmark results on HLA-B27 and ankylosing spondylitis2,3 we are still searching for the mechanism(s) involved in these associations.
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Tiwari, J.L., Terasaki, P.I. (1985). Mechanisms of HLA and Disease Associations. In: HLA and Disease Associations. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-8545-5_4
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DOI: https://doi.org/10.1007/978-1-4613-8545-5_4
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