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Molecular study in von Recklinghausen neurofibromatosis (NF1)

✍ Scribed by R. Vivarelli; G. Bartalini; L. Calistri; P. Balestri; A. Figus; M. Pirastu; A. Cao; A. Fois

Book ID
104680826
Publisher
Springer
Year
1991
Tongue
English
Weight
234 KB
Volume
7
Category
Article
ISSN
0256-7040

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✦ Synopsis

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.

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✍ Winfrid Krone; Inge HΓΆgemann πŸ“‚ Article πŸ“… 1986 πŸ› Springer 🌐 English βš– 305 KB

Cell cultures grown from peripheral neurofibromas of three patients suffering from sporadic peripheral neurofibromatosis (NF) were analysed cytogenetically at early in vitro passages. The NF-cultures exhibited a 6.7-fold higher frequency of aneuploid mitoses, including pseudodiploids, than the contr