| | |  | | | | Record from Web of Science® | | | | | | |
| METHYLATION OF HPAII AND HHAI SITES NEAR THE POLYMORPHIC CAG REPEAT IN THE HUMAN ANDROGEN-RECEPTOR GENE CORRELATES WITH X-CHROMOSOME INACTIVATION |
|
|
| Author(s): ALLEN RC, ZOGHBI HY, MOSELEY AB, ROSENBLATT HM, BELMONT JW |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 51 Issue: 6 Pages: 1229-1239 Published: DEC 1992 |
| Times Cited: 978 References: 42 |
| Abstract: The human androgen-receptor gene (HUMARA; GenBank) contains a highly polymorphic trinucleotide repeat in the first exon. We have found that the methylation of HpaII and HhaI sites less than 100 bp away from this polymorphic short tandem repeat (STR) correlates with X inactivation. The close proximity of the restriction-enzyme sites to the STR allows the development of a PCR assay that distinguishes between the maternal and paternal alleles and identifies their methylation status. The accuracy of this assay was tested on (a) DNA from hamster/human hybrid cell lines containing either an active or inactive human X chromosome; (b) DNA from normal males and females; and (c) DNA from females showing nonrandom patterns of X inactivation. Data obtained using this assay correlated substantially with those obtained using the PGK, HPRT, and M27beta probes, which detect X inactivation patterns by Southern blot analysis. In order to demonstrate one application of this assay, we examined X inactivation patterns in the B lymphocytes of potential and obligate carriers of X-linked agammaglobulinemia. |
| Document Type: Article |
| Language: English |
| Reprint Address: BELMONT, JW (reprint author), BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, T828, HOUSTON, TX 77030 USA |
Addresses:
1. BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, T828, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
3. BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: KC995 |
| ISSN: 0002-9297 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |