Abstract
Completion of the human genome project it providing us with a complete catalogue of human genes. However, the function of many of these genes remains obscure. One approach to establishing gene function is to study the consequences of transgenic knockouts. Unfortunately, the phenotype generated in mouse knockouts does not always match that arising in man. We have been studying a highly inbred population in which consanguineous marriage leads to the occurrence of rare, autosomal recessive diseases. The technique of [autozygosity mapping] allows the gene mutated in each of these diseases to be located in the genome, and subsequently cloned. Functional pointers are provided by the disease phenotype. Examples of genes mutated in hereditary forms of deafness, tooth decay and cleft palate will be presented.
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