التفاصيل البيبلوغرافية
| العنوان: |
Ancestral origins of the prion protein gene D178N mutation in the Basque Country. |
| المؤلفون: |
Rodríguez-Martínez, Ana B., Barreau, Christian, Coupry, Isabelle, Yagüe, Jordi, Sánchez-Valle, Raquel, Galdós-Alcelay, Luis, x00ed;n#Ibáñez, Agust&, x00f3;n#Digón, Ant&, Fernández-Manchola, Ignacio, Goizet, Cyril, Castro, Azucena, Cuevas, Nerea, Alvarez-Alvarez, Maite, Pancorbo, Marian, x00ee;t#Arveiler, Beno&, Zarranz, Juan J. |
| المصدر: |
Human Genetics; Jun2005, Vol. 117 Issue 1, p61-69, 9p |
| مصطلحات موضوعية: |
FATAL familial insomnia, CREUTZFELDT-Jakob disease, GENETIC mutation, PRION diseases, GENETIC disorders, HUMAN genetics |
| مستخلص: |
Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees around the world. Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993. The high incidence of familial prion diseases in this region may reflect a unique ancestral origin of the chromosome carrying this mutation. In order to investigate this putative founder effect, we developed “happy typing”, a new approach to the happy mapping method, which consists of the physical isolation of large haploid genomic DNA fragments and their analysis by the Polymerase Chain Reaction in order to perform haplotypic analysis instead of pedigree analysis. Six novel microsatellite markers, located in a 150-kb genomic segment flanking thePRNPgene were characterized for typing haploid DNA fragments of 285 kb in size. A common haplotype was found in patients from the Basque region, strongly suggesting a founder effect. We propose that “happy typing” constitutes an efficient method for determining disease-associated haplotypes, since the analysis of a single affected individual per pedigree should provide sufficient evidence. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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