PMID: 9633977Jun 20, 1998Paper

Carrier identification in X-linked immunodeficiency diseases

Journal of Paediatrics and Child Health
S L LiJ B Ziegler

Abstract

Carrier identification in X-linked immunodeficiency disorders can be based on the demonstration of non-random X inactivation (NRXI) in affected blood cell lineages when growth is impaired in cells expressing the abnormal gene. We examined the utility of seeking evidence of NRXI to test the carrier status of women in families affected by X-linked severe combined immunodeficiency (XSCID) and X-linked hypogammaglobulinaemia (XLH), to identify as carriers the mothers of boys with SCID or hypogammaglobulinaemia whose phenotype suggested X-linkage and to infer X-linkage in boys with SCID or hypogammaglobulinaemia whose disease was not clearly X-linked on the basis either of family history or clinical and immunological characteristics. A polymerase chain reaction-based method was used to amplify a polymorphic CAG repeat in the first exon of the androgen receptor gene after selective digestion of the active X chromosome with a methylation-sensitive enzyme, HpaII to distinguish between the paternal and maternal alleles and to identify their methylation status. Heterozygosity was found in 24 of 31 female subjects (77%). As anticipated, NRXI could be demonstrated in all lymphoid cells studied from obligate carriers of XSCID and an obligat...Continue Reading

Citations

Apr 28, 2009·Human Genetics·Karen Helene Orstavik
Jun 11, 2005·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Francisco A BonillaUNKNOWN Joint Council of Allergy, Asthma and Immunology
Apr 4, 2001·Memórias do Instituto Oswaldo Cruz·V Bongertz
Apr 4, 2021·Diagnostics·Francesco RispoliAlberto Tommasini

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