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

US20110008773A1Inactive Publication Date: 2011-01-13KLUWE LAN
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Authority / Receiving Office
US · United States
Current Assignee / Owner
Publication Date
2011-01-13
Estimated Expiration
Not applicable · inactive patent

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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.
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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...

Examples

example 2

1. Patients and Methods

[0038]An afflicted individual diagnosed as having neurofibromatosis 2 (NF2) (hereinafter, “afflicted individual 358”) by the updated NIH diagnostic criteria for NF2 was selected [Gutmann, D., et al., JAMA (1997) 278:51-57]. Biolateral vestibular schwannomas as the hallmark of NF2. One skin schwannoma was removed from afflicted individual #358.

[0039]Methods for DNA extraction from blood from individual #358 and offspring and tumor from individual #358 were performed as described in Kluwe, et al., supra. Haplotype analysis of the afflicted individual and offspring using allelic loss analysis of the NF2 gene in the tumor of the individual #358 was performed using five microsatellite markers flanking or within the NF2 gene: CRYB2, D22S275, NF2CA3, D225268 and D22S430 [Kluwe, et al., Neurogenet. (2000) 3:17-24; Durham, I., et al., Nature (1999) 402:489-495].

2. Results

[0040]Afflicted individual #358 had two offspring. FIG. 4 shows the haplotyping analysis for indivi...