{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:38:16Z","timestamp":1760575096153,"version":"build-2065373602"},"reference-count":32,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2008,11,17]],"date-time":"2008-11-17T00:00:00Z","timestamp":1226880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>MC1R<\/jats:italic> gene encodes a protein with key regulatory functions in the melanin synthesis. A multiplex PCR and a multiplex single base extension protocol were established for genotyping six exonic <jats:italic>MC1R<\/jats:italic> variations highly penetrant for red hair (R), four exonic <jats:italic>MC1R<\/jats:italic> variations weakly penetrant for red hair (r), two frameshift variations highly penetrant for red hair (R) and three variations in the promoter region. We genotyped 600 individuals from Denmark using either CE or MALDI\u2010TOF MS as the detection platform. A total of 62 individuals were genotyped R\/R and among the 62 individuals, 57 had red hair and five had blond hair colour. Two different R alleles may be located in <jats:italic>cis<\/jats:italic> (RR\/\u2212) position or <jats:italic>trans<\/jats:italic> (R\/R) position, and the phenotype associated with RR\/\u2212 and R\/R may be different. Two allele\u2010specific PCRs were established with primers targeting the \u2212G445A variation in the <jats:italic>MC1R<\/jats:italic> promoter and the allele\u2010specific PCR products were used in the multiplex single base extension assay. In all 62 individuals, the <jats:italic>MC1R<\/jats:italic> variants were situated in <jats:italic>trans<\/jats:italic> position. Another 18 individuals with red hair colour were either genotyped R\/\u2212 or R\/r, suggesting that other genes influence hair colour.<\/jats:p>","DOI":"10.1002\/elps.200800107","type":"journal-article","created":{"date-parts":[[2008,11,17]],"date-time":"2008-11-17T08:51:07Z","timestamp":1226911867000},"page":"4780-4787","source":"Crossref","is-referenced-by-count":8,"title":["Determination of cis\/trans phase of variations in the MC1R gene with allele\u2010specific PCR and single base extension"],"prefix":"10.1002","volume":"29","author":[{"given":"Jonas","family":"Mengel\u2010From","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"B\u00f8rsting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan J.","family":"Sanchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Eiberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Morling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,12,3]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.peptides.2004.11.041"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1228"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00791-0"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.peptides.2004.11.021"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00278.x"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-1634"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh043"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0379-0738(01)00480-7"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/323412"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1556-4029.2006.00361.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.17.2531"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0935"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0141-1"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi219"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm177"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23444.x"},{"key":"e_1_2_6_18_2","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1158\/1055-9965.808.13.5","volume":"13","author":"Kanetsky P. 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