期刊
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
卷 39, 期 2, 页码 110-113出版社
WILEY
DOI: 10.1111/j.1744-313X.2011.01071.x
关键词
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资金
- 'Instituto de Genetica Medica y Molecular' (INGEMM) at Hospital Universitario La Paz
- Spanish Ministerio de Asuntos Exteriores (AECI) [A/014220/07, A/019802/08]
- 'Fundacion para la Investigacion Biomedica-Hospital Universitario La Paz' (FIBHULP)
- 'CIBER de Enfermedades Raras' (CIBERER)
Several polymorphisms in the complement components factor H and CFHR1 are associated with higher risk to develop atypical Haemolytic Uraemic Syndrome (aHUS) in Caucasians. We have determined the prevalence of these polymorphisms in Tunisian controls by using genetic and immunological techniques. No differences in the frequency of the factor H risk alleles c.-331C>T, c.2089A>G or c.2881G>T between Tunisian and Caucasians were found. On the contrary, the analysis of CFHR1 polymorphism revealed a higher frequency of Tunisian individuals homozygous for the CFHR1*Del (deleted) allele, and of individuals presenting the CFHR1*A phenotype. These results suggest distinct contributions of factor H and CFHR1 polymorphisms to aHUS in Tunisian and Caucasian populations.
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