Linkage analysis : An important tool for pre-clinical alport's diagnosis

Abstract EN

The phenotypic heterogeneity of Alport's syndrome (AS) is well explained by the genetic heterogeneity.

Therefore, the application of genetic techniques, such as linkage analysis (LA), could be helpful in the correct diagnosis of this disease.

We performed LA in a family who manifested X-linked inheritance.

We used 10 fluorescent microsatellite markers to cover the q-arms of chromosome X.

The poly chain reaction (PCR) products were separated on an ABI 377 Sequencer and genotypes were identified using the ABI Gene scan / Gene type software.

We confirm in this family an X-linked dominant transmission of AS.

All affected individuals shared the same haplotype for the region Xq22.

The genetic diagnosis of AS was confirmed in individuals aged one month and 4 years before any clinical manifestation of AS.

We conclude that LA is a powerful and approachable tool, which could be used in the diagnosis of AS.

An accurate genetic family study using LA may be helpful for correct classification, genetic counseling, prognosis evaluation, the assessment of the risk for kidney transplantation, and for the follow-up and therapy of AS.