{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T05:41:36Z","timestamp":1697780496153},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7824,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present our strategy and progress towards the identification of rare restriction fragment length variants (RFLVs) segregating with the fragile\u2010X syndrome. DNA from a carrier mother and two retarded sons was digested with 7 restriction endonucleases and Southern blots were probed with cloned unique X\u2010chromosomal sequences. Two of 17 cloned segments tested revealed RFLVs between the X\u2010chromosomes of the carrier mother. One of them detected variants using <jats:styled-content>Pvu<\/jats:styled-content> II and <jats:styled-content>Msp<\/jats:styled-content> I. The <jats:styled-content>Pvu<\/jats:styled-content> II and <jats:styled-content>Msp<\/jats:styled-content> I alleles found on the X\u2010chromosome bearing the fragile\u2010X mutation were not found in 31 and 22 random X\u2010chromosomes, respectively. The other probe detected variants using <jats:styled-content>Pvu<\/jats:styled-content> II and <jats:styled-content>Taq<\/jats:styled-content> I. The <jats:styled-content>Taq<\/jats:styled-content> I allele present on the X\u2010chromosome with the fragile\u2010X mutation was found in 23 out of 25 random X\u2010chromosomes, while the <jats:styled-content>Pvu<\/jats:styled-content> II allele was not found in 21 random X\u2010chromosomes. One of these probes and two other cloned unique X\u2010chromosome sequences were localized distal to Xq26 by <jats:styled-content>in situ<\/jats:styled-content> hybridization to prometaphase chromosomes and by probing Southern blots containing DNA from a deleted X\u2010chromosome. These are being used for linkage analysis in an extended family.<\/jats:p>","DOI":"10.1002\/ajmg.1320170118","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:00:44Z","timestamp":1118516444000},"page":"259-273","source":"Crossref","is-referenced-by-count":5,"title":["The fragile\u2010X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs)"],"prefix":"10.1002","volume":"17","author":[{"given":"Jeanette J. A.","family":"Holden","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hungshu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradley N.","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"253","article-title":"More base pair change polymorphisms at sites containing CpG","volume":"32","author":"Barker D","year":"1982","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.322279"},{"key":"e_1_2_1_4_1","first-page":"314","article-title":"Construction of a genetic linkage map in man using RFLPs","volume":"32","author":"Botstein D","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150115"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.5.2829"},{"key":"e_1_2_1_7_1","first-page":"162A","article-title":"The isolation and use of cloned X\u2010chromosome unique sequences in the study of X\u2010linked disorders","volume":"34","author":"Hamerton J","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","unstructured":"HamertonJL WangHS RiddellDC BeckettJ HoldenJJA MulliganL PhillipsA SimpsonN WhiteBN WrogemannK(1984). 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Preliminary data on growth and development in males.Amer J Med Genet this issue."},{"key":"e_1_2_1_17_1","first-page":"308","article-title":"Considerations in designing an efficient strategy for localizing unique sequence DNA fragments to human chromosomes","volume":"32","author":"Pearson PL","year":"1982","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(77)90052-3"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1128\/jvi.15.5.1065-1072.1975","article-title":"Assay for Epstein\u2010Barr Virus based on stimulation of DNA synthesis in mixed leukocytes from human unbilical cord blood","volume":"15","author":"Robinson J","year":"1975","journal-title":"J Virol"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131699"},{"key":"e_1_2_1_21_1","unstructured":"SoudekDE PartingtonMW LawsonJS(1983). The Fragile\u2010X syndrome I. 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