Prenatal Diagnostics of Tuberous Sclerosis Based on Causal Mutation Knowledge
Authors:
R. Vrtěl; R. Vodička; A. Šantavá; J. Šantavý; E. Krejčiříková
Authors‘ workplace:
Ústav lékařské genetiky a fetální medicíny FN a UP, Olomouc
Published in:
Čas. Lék. čes. 2006; 145: 130-132
Category:
Original Article
Overview
Background.
Tuberous sclerosis is an autosomal-dominant disease characterised by development of benign growth - hamartomas in different organs. Disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 or TSC2. Quest for causing mutations is very difficult due to their random distribution over the genes.
Methods and Results.
Article refers on accomplishment of the first tuberous sclerosis prenatal diagnostics in Czech Republic based on knowledge of causing mutation. Foetal DNA sample, obtained in 13th week from Q435X family pregnant woman, was analyzed by DGGE method.
Conclusions.
Examination excluded presence of tested TSC1 gene defect in an offspring.
Key words:
tuberous sclerosis, prenatal diagnostics, DGGE.
Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain managementArticle was published in
Journal of Czech Physicians
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