Abstract
Following a discussion of the structure and function of DNA and how the mutation of DNA causes disease, this paper presents genetic analyses of three different kinds of developmental disabilities. In Lesch-Nyhan syndrome or HPRT deficiency, mutations linked to this syndrome were found to occur randomly throughout the HPRT gene. The genetic analyses of a very rare female case, first found in our institution, is also presented here. With erythrocyte AMP deaminase deficiency, 75% of the mutations were of the same type and 25% of various types. In the third case, over 99% of FGFR3 mutations, which causes achondroplasia, were found at the specific transmembrane domain. This paper thus illustrates how three developmental disabilities can be correlated with different types of genetic mutations.
