In this chapter we have reviewed several present and potential examples of DNA studies of hereditary endocrine disorders of humans. For the former, recombinant DNA studies have provided insights into the location and types of molecular derangements underlying these diseases. The gene alterations detected have in turn explained the aetiology of quantitative or qualitative alterations in the hormone product. The same methods used in these studies should be applicable to determining the aetiology of many other genetic disorders that affect these, as well as other, hormones for which specific DNA probes are or will become available.
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