Summary
The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27β), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, and neutrophils, but not in fibroblasts, of obligate carriers, suggesting that different hematopoietic cell lineages are primarily involved in HIGM1. Preferential inactivation of the paternally derived X-chromosome was demonstrated by analysis of segregation of the alleles defined by the pSPT-PGK and M27β probes. The possibility that the HIGM1 mutation may confer a proliferative and/or differential advantage to hematopoietic precursors carrying the mutated allele on the active X-chromosome is discussed.
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Notarangelo, L.D., Parolini, O., Albertini, A. et al. Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages. Hum Genet 88, 130–134 (1991). https://doi.org/10.1007/BF00206059
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DOI: https://doi.org/10.1007/BF00206059