Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells
| Autor: | Alison Jones, Christine Kinnon, Ruth C. Lovering, Sally Genet, Mahesh de Alwis, Helen Middleton-Price, Sue Malcolm, Gareth Morgan, Roland J. Levinsky, Lesley A. Alterman |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
X Chromosome
Genetic Linkage Molecular Sequence Data Immunology X-linked agammaglobulinemia Locus (genetics) Cell Separation Biology Immunomagnetic separation Methylation Polymerase Chain Reaction X-inactivation law.invention Agammaglobulinemia law Dosage Compensation Genetic hemic and lymphatic diseases medicine Humans Immunology and Allergy Polymerase chain reaction B cell DNA Primers Genetics B-Lymphocytes Base Sequence Genetic Carrier Screening DNA medicine.disease Molecular biology Androgen receptor medicine.anatomical_structure Receptors Androgen Female Restriction fragment length polymorphism |
| Zdroj: | Journal of Immunological Methods. 166:111-116 |
| ISSN: | 0022-1759 |
| DOI: | 10.1016/0022-1759(93)90334-4 |
| Popis: | We report the development of a relatively quick and simple method for the assessment of X inactivation status for carrier determination in families affected by X-linked agammaglobulinemia (XLA). This method utilises an immunomagnetic separation technique for B cell purification and a polymerase chain reaction (PCR) based assay for the determination of methylation status at the androgen receptor (AR) gene locus to assess whether X inactivation is random or non-random at this locus. We report the results we have obtained using this assay to investigate females known to be carriers of various X-linked immunodeficiency disorders. In addition, we investigated four females from different families affected by XLA, two of whom were of unknown carrier status, and we discuss the results obtained with this and other X-inactivation assays. A similar assay has recently been described by Allen et al. (1992) and applied to members of one family affected by XLA. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|