| First Author | Shanmugam V | Year | 1996 |
| Journal | Biochem Genet | Volume | 34 |
| Issue | 1-2 | Pages | 17-29 |
| PubMed ID | 8935990 | Mgi Jnum | J:32578 |
| Mgi Id | MGI:80072 | Doi | 10.1007/BF02396237 |
| Citation | Shanmugam V, et al. (1996) A novel Tth111I restriction fragment length polymorphism (RFLP) allows tracing of X-chromosome inactivation in the (Xid) heterozygote. Biochem Genet 34(1-2):17-29 |
| abstractText | The X-linked immunodeficiency (Xid) in CBA/N mice serves as a model for the X-linked agammaglobulinemia (XLA) syndrome in man. X-chromosome inactivation in F1 heterozygotes derived from CBA/N (Xxid/Xxid) and B6.Pgk-1a (X+/Y) was investigated by monitoring the methylation status of the individual Pgk-1 alleles, Pgk-1b and Pgk-1a, respectively, using a novel Tth111I RFLP. Results indicate that in circulating B lymphocytes of female heterozygotes, only the X chromosomes carrying the normal alleles (X+) are active (nonrandom inactivation of the X chromosome), whereas in non-B cells both the X chromosomes (X+ and Xxid) are active (random inactivation of the X chromosome). These results were further confirmed by direct evaluation of transcription of the Btk gene, the gene mutated both in Xid and in XLA. |
