{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:20:11Z","timestamp":1788283211012,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Protocols"],"published-print":{"date-parts":[[2023,4]]},"abstract":"Abstract<\/jats:title>\n \n X chromosome inactivation patterns may be clinically useful in assessing tumor clonality, determining carrier status for certain X\u2010linked disorders, and evaluating the pathogenicity of a genetic variant identified in an X\u2010linked gene. The protocols in this article utilize the highly polymorphic trinucleotide repeat within the first exon of the human androgen receptor gene (\n AR<\/jats:italic>\n ) and the methylation\u2010sensitive restriction enzyme\n Hpa<\/jats:italic>\n II to distinguish between the maternal and paternal alleles and simultaneously determine their methylation status. The data obtained from these protocols can be used to calculate the ratio of inactivation between the two alleles that ultimately reflects whether a female has a random or nonrandom pattern of X chromosome inactivation. \u00a9 2023 Wiley Periodicals LLC.\n <\/jats:p>\n \n Basic Protocol 1<\/jats:bold>\n : X chromosome inactivation assay\n <\/jats:p>\n \n Basic Protocol 2<\/jats:bold>\n : PCR amplification and labeling of digested and undigested DNA templates\n <\/jats:p>","DOI":"10.1002\/cpz1.748","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T09:15:21Z","timestamp":1681895721000},"source":"Crossref","is-referenced-by-count":5,"title":["Nonrandom X Chromosome Inactivation Detection"],"prefix":"10.1002","volume":"3","author":[{"given":"Raymond C.","family":"Caylor","sequence":"first","affiliation":[{"name":"Molecular Diagnostic Laboratory Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CA repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R.","year":"1992","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0905s80"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V88.1.59.59"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5496.1578"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hga03bs19"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0907s80"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142727.mb1501s56"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.117670"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400323"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103714"},{"key":"e_1_2_7_12_1","first-page":"646","article-title":"Do twin Lyons have larger spots?","volume":"46","author":"Nance W.","year":"1990","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"},{"key":"e_1_2_7_14_1","first-page":"989","article-title":"Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females","volume":"54","author":"Pegoraro E.","year":"1994","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/513901"},{"key":"e_1_2_7_16_1","first-page":"742","article-title":"Maximum\u2010likelihood analysis of human T\u2010cell X chromosome inactivation patterns: Normal women versus carriers of X\u2010linked severe combined immunodeficiency","volume":"50","author":"Puck J. M.","year":"1992","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_7_18_1","first-page":"1191","volume-title":"The metabolic & molecular bases of inherited disease","author":"Willard H.","year":"2001"}],"container-title":["Current Protocols"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cpz1.748","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cpz1.748","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cpz1.748","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T16:59:06Z","timestamp":1788281946000},"score":1,"resource":{"primary":{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/cpz1.748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/cpz1.748"],"URL":"https:\/\/doi.org\/10.1002\/cpz1.748","archive":["Portico"],"relation":{},"ISSN":["2691-1299","2691-1299"],"issn-type":[{"value":"2691-1299","type":"print"},{"value":"2691-1299","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4]]},"article-number":"e748"}}