1. 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.
- Author
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Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, and Lisowska-Grospierre B
- Subjects
- Africa, Northern ethnology, Base Sequence, Chromosomes, Human, Pair 19 genetics, Consanguinity, DNA-Binding Proteins, Female, Genetic Complementation Test, Haplotypes, Humans, Male, Microsatellite Repeats, Molecular Sequence Data, Pedigree, Polymorphism, Single-Stranded Conformational, Founder Effect, Genes, MHC Class II, Histocompatibility Antigens Class II genetics, Immunologic Deficiency Syndromes genetics, Sequence Deletion, Transcription Factors genetics
- 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.
- Published
- 2000
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