{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:49:27Z","timestamp":1791298167164,"version":"4.1.0"},"reference-count":32,"publisher":"National Academy of Sciences","issue":"10","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2001,5,8]]},"abstract":"<jats:p>\n                    Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal\n recessive disorder associated with progressive aplastic anemia,\n congenital abnormalities, and cancer. FA has a very high incidence in\n the Afrikaner population of South Africa, possibly due to a founder\n effect. Previously we observed allelic association between polymorphic\n markers flanking the FA group A gene (\n                    <jats:italic>FANCA<\/jats:italic>\n                    ) and disease\n chromosomes in Afrikaners. We genotyped 26 FA families with\n microsatellite and single nucleotide polymorphic markers and detected\n five\n                    <jats:italic>FANCA<\/jats:italic>\n                    haplotypes. Mutation scanning of the\n                    <jats:italic>FANCA<\/jats:italic>\n                    gene revealed association of these haplotypes with\n four different mutations. The most common was an intragenic deletion of\n exons 12\u201331, accounting for 60% of FA chromosomes in 46 unrelated\n Afrikaner FA patients, while two other mutations accounted for an\n additional 20%. Screening for these mutations in the European\n populations ancestral to the Afrikaners detected one patient from the\n Western Ruhr region of Germany who was heterozygous for the major\n deletion. The mutation was associated with the same unique\n                    <jats:italic>FANCA<\/jats:italic>\n                    haplotype as in Afrikaner patients. Genealogical\n investigation of 12 Afrikaner families with FA revealed that all were\n descended from a French Huguenot couple who arrived at the Cape on June\n 5, 1688, whereas mutation analysis showed that the carriers of the\n major mutation were descendants of this same couple. The molecular and\n genealogical evidence is consistent with transmission of the major\n mutation to Western Germany and the Cape near the end of the 17th\n century, confirming the existence of a founder effect for FA in South\n Africa.\n                  <\/jats:p>","DOI":"10.1073\/pnas.091402398","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:44:19Z","timestamp":1027680259000},"page":"5734-5739","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":88,"title":["Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa"],"prefix":"10.1073","volume":"98","author":[{"given":"A. J.","family":"Tipping","sequence":"first","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Pearson","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. V.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. A.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. P.","family":"Kuyt","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Havenga","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Gluckman","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Joenje","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"de Ravel","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. G.","family":"Mathew","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics, Guy's, King's, and\r St. Thomas' School of Medicine, 8th Floor Guy's Tower, Guy's\r Hospital, London Bridge, London SE1 9RT, United Kingdom;\r Division of Human Genetics, Department of Neurology, and\r Department of Pediatrics, Faculty of Health Sciences,\r University of the Orange Free State, P.O. Box 339, Bloemfontein 9300,\r South Africa; Department of Human Genetics, Free\r University of Amsterdam, Van der Boechorststraat 7,1081-BT\r Amsterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2001,5,8]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-196"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-320"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-324"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/3093"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/71626"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/230370a0"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62959-0"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0693-202"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030402"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V86.11.4034.bloodjournal86114034"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-74179-1_3"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270408"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.760"},{"key":"e_1_3_3_14_2","volume-title":"The Porphyrias: A Story of Inheritance and Environment","author":"Dean G","year":"1971","unstructured":"G Dean The Porphyrias: A Story of Inheritance and Environment (Pitman Medical, 2nd Ed., London, 1971).","edition":"2"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-95"},{"key":"e_1_3_3_16_2","first-page":"186","volume-title":"The Peoples of Southern Africa and their Affinities","author":"Nurse G T","year":"1985","unstructured":"G T Nurse, J S Weiner, T Jenkins The Peoples of Southern Africa and their Affinities (Clarendon, Oxford), pp. 186\u2013217 (1985)."},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-338"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-74179-1_6"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/302627"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200248"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.10.2887"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90005-D"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(05)80360-2"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114258"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1991.tb00404.x"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00206073"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5353"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.8.773"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2864"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.24.13051"},{"key":"e_1_3_3_32_2","volume-title":"A Social History of Germany 1648\u20131914","author":"Sagarra E","year":"1977","unstructured":"E Sagarra A Social History of Germany 1648\u20131914 (Methuen, London, 1977)."}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.091402398","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T19:12:07Z","timestamp":1649790727000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.091402398"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5,8]]},"references-count":32,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2001,5,8]]}},"alternative-id":["10.1073\/pnas.091402398"],"URL":"https:\/\/doi.org\/10.1073\/pnas.091402398","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5,8]]},"assertion":[{"value":"2000-08-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2001-05-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}