Homo sapiens

Allgrove syndrome (three A syndrome) is a rare autosomal recessive hereditary disease characterized by adrenal insufficiency which is refractory to ACTH treatment, absence of tearing, achalasia and autonomous neuropathy.

In 1996, a study of 22 affected subjects and their families confirmed the localization of the gene responsible for Allgrove syndrome to a 6 cM interval on the long arm of chromosome 12, at 12q13.

In a study of a consanguinous population from North Africa, the critical genetic region was reduced from 6 to 0 cM at locus D12S1604; there was complete linkage disequilibrium between a rare allele of marker AFMa189yd9 and the AAA locus, and a probable founder effect was detected. Scanning of a PAC library using the microsatellite marker in complete linkage disequilibrium permitted selection of a PAC containing part or all of the gene.

This is a collaborative project for sequencing the PAC insert which is estimated to be 66 kb.