Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency.
Analysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease.
D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004303:Dosage Compensation, Genetic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000032:analysis / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D010735:Phosphoglycerate Kinase / Q000032:analysis / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000201:enzymology / Q000235:genetics; D013601:T-Lymphocytes / Q000032:analysis / Q000201:enzymology
D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase; D010735:Phosphoglycerate Kinase