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Scientific article
English

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B

Published inImmunogenetics, vol. 51, no. 4-5, p. 261-267
Publication date2000
Abstract

Expression of major histocompatibility complex (MHC) class II genes is controlled at the transcriptional level by at least four trans-acting genes, CIITA, RFXANK, RFX5, and RFXAP. Defects in these regulatory genes result in the absence of MHC class II molecule expression and, thereby, cause a combined immunodeficiency. MHC class II deficiency is inherited as an autosomal recessive trait. Since the first description of the disease, about 70 patients from 50 families have been reported. Forty-three of these families have been classified into four complementation groups: A, B, C, and D. In the largest group, B, the majority of patients are of North African origin. In two of these patients, the same mutation in the RFXANK gene (752delG-25) was identified. We performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 752delG-25 mutation in 17. All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning the RFXANK locus.

Keywords
  • Africa, Northern/ethnology
  • Base Sequence
  • Chromosomes, Human, Pair 19/genetics
  • Consanguinity
  • Female
  • Founder Effect
  • Genes, MHC Class II
  • Genetic Complementation Test
  • Haplotypes
  • Histocompatibility Antigens Class II/ genetics
  • Humans
  • Immunologic Deficiency Syndromes/ genetics
  • Male
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion
  • Transcription Factors/ genetics
Affiliation Not a UNIGE publication
Citation (ISO format)
WISZNIEWSKI, W. et al. Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. In: Immunogenetics, 2000, vol. 51, n° 4-5, p. 261–267. doi: 10.1007/s002510050619
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ISSN of the journal0093-7711
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