Carrier detection in agammaglobulinemia by X chromosome inactivation analysis.
Using a recently developed strategy to analyze patterns of X chromosome inactivation in cell populations, we found that two mothers and a sister were carriers in three atypical or sporadic cases of patients with agammaglobulinemia, two of whom were brothers. In this study, a phosphoglycerate kinase 1 (PGK1) gene probe was used to detect patterns of methylation of X-chromosome genes. A random pattern of X inactivation was observed in isolated peripheral blood granulocytes. In contrast, one of the two X chromosomes was preferentially active in the Epstein-Barr virus (EBV)-transformed peripheral B cells of the family members of these patients. The volume of the blood specimen could be significantly reduced using EBV-transformed B cell lines which contained multiple clones. The analysis described here can be used to distinguish between X-linked agammaglobulinemia (XLA) and other forms of a- or hypo-gammaglobulinemia as well as to detect the carrier state.
Miyashita
T
T
Department of Virology, National Children's Medical Research Center, Tokyo, Japan.
Iwata
T
T
Mizutani
S
S
Kamoshita
S
S
Kobayashi
N
N
D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D001402:B-Lymphocytes / Q000382:microbiology / Q000648:ultrastructure*; D002460:Cell Line; D002472:Cell Transformation, Viral; D015342:DNA Probes; D004303:Dosage Compensation, Genetic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage / Q000235:genetics; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D010735:Phosphoglycerate Kinase; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D015342:DNA Probes; D010735:Phosphoglycerate Kinase