Method for the determination of data for the preparation of the diagnosis of phakomatosis

Abstract

The invention concerns a method for the determination of data for the preparation of presymptomatic or prenatal diagnosis of phakomatosis, in particular, a tumor suppressor gene disease, in a high-risk patient, in particular of neurofibromatosis, comprising the steps of: making available the tumor material from a person afflicted with the tumor suppressor gene disease, who is a relative of the high-risk patient; isolating tumor DNA from the tumor in the relative; isolating blood DNA from the blood of the relative; amplifying polymorphous DNA microsatellite markers from the tumor and the blood; separating the markers by length; observing the lengths of the markers; comparing the markers from the blood and the tumor; examining for a loss of alleles; optionally, comparing amplified markers from a second tumor of the relative; and amplifying polymorphous DNA microsatellite markers from the blood of an offspring and separating and observing the markers.

Description

FIELD OF THE INVENTION[0001]The invention concerns a method for the determination of data for the preparation of the presymptomatic or prenatal diagnosis of phakomatosis, in particular of tumor suppressor gene diseases, in particular of neurofibromatosis (type 1, type 2). Such methods are useful for children of parents suffering from a hereditary disease or their grandchildren to increase the probability of early detection of a new occurrence of the hereditary disease, or (if possible) of prenatal evaluation.BACKGROUND OF THE INVENTION[0002]The current state of the art for the preparation of the corresponding diagnosis, for this purpose, uses a mutation analysis of the DNA section coding for the characterizing gene for the hereditary disease. These tumor suppressor gene diseases include the autosomal dominant inherited neurofibromatoses.[0003]Neurofibromatosis occurs in two types, the peripheral type, called type 1, which represents approximately 85% of the cases, and the “central t...

AI Technical Summary

Benefits of technology

[0013]In an additional preferred embodiment such an LOH is verified, if possible, in at least one additional tumor of the afflicted individual, that is the above-mentioned steps are carried out with at least one additional tumor of the afflicted individual, if the tumor is available. In this manner the reliability of the data obtained can be further increased. This is particularly advantageous in prenatal diagnosis.

[0014]An additional embodiment example of the invention is also carried out by steps b), d), f), h) and j) of claim 4 with the blood o

Problems solved by technology

The drawback of the mutation analysis is that it is very time consuming.

In addition, one drawback of the known mutation analysis is that in high-risk

Images