Lien pour acceder au site du CEA
Site Genoscope en langue française Genoscope site in english El sitio Genoscope en español
Home page > Sequencing > Projects > Animals > Homo sapiens > Sequencing of a region near D12S1604

All the versions of this article:

Homo sapiens

Sequencing of a region near D12S1604

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.

Last update on 11 January 2008

© Genoscope - Centre National de Séquençage
2 rue Gaston Crémieux CP5706 91057 Evry cedex
Tél:  (+33) 0 1 60 87 25 00
Fax: (+33) 0 1 60 87 25 14

Home | Overview | Projects | News | Press Panorama | Resources | Contact
Follow-up of the site's activity RSS 2.0 | Site Map | Credits | Copyright