These pages are best viewed with Netscape version 3.0 or higher or Internet Explorer version 3.0 or higher. When viewed with other browsers, some characters or attributes may not be rendered correctly. The pathophysiology of LD is presently unknown, but lipoatrophy could result from alterations in the pattern of adipocyte differentiation. We identified a single amino acid variant in the PPAR- 2 specific exon B, the occurrence of which was evaluated in control subjects and in patients with major insulin resistance syndromes or type 2 diabetes.
Arrows show the markers used for linkage studies.
As an example, we show in Fig. A the results of this genetic study in the consanguineous family Ou. It is obvious that the PPAR locus does not segregate with the disease since the parents do not share in common any haplotype and the affected patient is not homozygous. Molecular screening of the Ala12Pro variant in the PPAR- 2 gene and the relation to clinical and biological features of the consanguineous LD family Ou. Clinical, biological, and genetic studies of members of family Ou.