NR ATMY
AU Rodriguez-Martinez,A.B.; Zarranz,J.J.; Atares,B.; Arteagoitia,J.M.; Martinez de Pancorbo,M.
TI Analysis of the PRNP 129 Polymorphism in Prospective and Retrospective Samples with Sporadic Creutzfeldt-Jakob Disease (sCJD) in the Basque Country
QU International Conference - Prion 2005: Between fundamentals and society's needs - 19.10.-21.10.2005, Congress Center Düsseldorf - Poster Session: Genetics, strains and emerging problems GEN-24
PT Konferenz-Poster
AB
OBJECTIVE:To analyse the distribution of PRNP 129 polymorphism in prospective and retrospective samples with sCJD and to compare it with a control population sample from the Basque Country. INTRODUCTION: The Registry for Prion Diseases in the Basque Country was established in 1993 and to date, a total of 61 cases affected with prion disease has been reported1. PATIENTS AND METHODS: A total of 119 control cases aging more than 50 years were studied by PCR followed by enzyme restriction digestion. Among sCJD cases (17), 14 were collected prospectively and 3 retrospectively (paraffin-embedded brain tissue samples). Prospective samples were studied by PCR and sequence analysis. Retrospective cases were studied by double rounded PCR, and further sequence analysis. RESULTS: The codon 129 genotype distribution in the control population is 40,3% for methionine-methionine (MM), 47,1% for methionine-valine (MV) and 12,6% for valine-valine (VV), being the allele frequency of M, 0,639 (±0.041) and for V, 0,361 (±0,023). For sCJD cases, the distribution of the polymorphism is 35,3% for MM and VV, and 29,4% for MV, being the allele frequencies for M and V, 0.5 (±0,086).
CONCLUSIONS: The distribution of PRNP 129 polymorphism in the Basque population is similar to those previously reported in other western European countries2. Among sCJD cases, homozygous MM or VV are overrepresented confirming the well known increased susceptibility of homozygous people to suffer all types of prion diseases3. However, when comparing our sCJD cases with other Caucasian populations, we found that the frequency of VV genotype is higher than previously reported4. This figure can be due to the small sample size here studied. Thus, a larger number of sCJD cases is needed to confirm these results.
BIBLIOGRAPHY: 1. Zarranz et al. Neuroepidemiol. 2005;24:103-9. 2. Nurmi et al. Acta Neurol Scand. 2003 Nov;108:374-8. 3. Collinge et al. Lancet. 19. 4. Sánchez-Valle et al. Eur J Hum Genet 2004 Oct;11:649-55.
AD A.B.Rodríguez-Martínez, Unidad de Genómica: Banco de ADN, Facultad de Farmacia, University of the Basque Country, Vitoria-Gasteiz, Spain; J.J.Zarranz, Servicio de Neurología, Hospital de Cruces, University of the Basque Country, Bizkaia, Spain; B.Atarés, Servicio de Anatomía, Hospital de Txagorritxu, Vitoria Gasteiz, Spain; J.J.Arteagoitia, Dpto. Sanidad, Gobierno Vasco, Vitoria-Gasteiz, Spain; Martínez de Pancorbo,M., Unidad de Genómica: Banco de ADN, Facultad de Farmacia, University of the Basque Country, Vitoria-Gasteiz, Spain
SP englisch
PO Deutschland