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A novelTth111I restriction fragment length polymorphism (RFLP) allows tracing of X-chromosome inactivation in the (Xid) heterozygote

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Abstract

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 individualPgk-1 alleles,Pgk-1b andPgk-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 theBtk gene, the gene mutated both in Xid and in XLA.

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Correspondence to Bratin K. Saha.

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Shanmugam, V., Chapman, V.M., Sell, K.W. et al. A novelTth111I restriction fragment length polymorphism (RFLP) allows tracing of X-chromosome inactivation in the (Xid) heterozygote. Biochem Genet 34, 17–29 (1996). https://doi.org/10.1007/BF02396237

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  • DOI: https://doi.org/10.1007/BF02396237

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