{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T10:13:19Z","timestamp":1698660799047},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,12,25]],"date-time":"2001-12-25T00:00:00Z","timestamp":1009238400000},"content-version":"vor","delay-in-days":724,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2000,1]]},"abstract":"<jats:p>Abstract: We have studied three Brazilian kindreds presenting spectrin \u03b1I\/74 hereditary elliptocytosis (HE) due to a G\u2192A substitution, responsible for the R28H mutation. The mutant allele was associated with \u03b1I domain haplotype 1 (XbaI<jats:sup>\u2212<\/jats:sup>\/MspI<jats:sup>\u2212<\/jats:sup>\/PvuII<jats:sup>+<\/jats:sup>) in all three families and with two different \u03b1II domain haplotypes (1\/RIT, 4\/RVR). This result may reflect that this mutation occurs in a \u201chot spot\u201d and may have arisen more than once or that a crossing over event may have occurred between the two domains studied. We detected one new haplotype in the \u03b1I domain (haplotype 3 \u2013 XbaI<jats:sup>+<\/jats:sup>\/MspI<jats:sup>\u2212<\/jats:sup>\/PvuII<jats:sup>+<\/jats:sup>). The mutant allele was associated with the lack of the \u03b1II domain Alu insertion in all three cases. Allele \u03b1<jats:sup>LELY<\/jats:sup>, detected by PCR and restriction enzyme digestion, was present in the heterozygous form in patient 1 (\u03b1<jats:sup>HE<\/jats:sup>\/\u03b1<jats:sup>LELY<\/jats:sup>) and in the homozygous form in patients 2 and 3 (\u03b1<jats:sup>HE\u2010LELY<\/jats:sup>\/\u03b1<jats:sup>LELY<\/jats:sup>). It was found to be associated with \u03b1II domain haplotypes 1 (RIT) and 4 (RVR) and with the presence and absence of the Alu insertion. This may have arisen through recombination events, since this polymorphism is located in the \u03b1IV\u2013\u03b1V domain junction, which is far distant from the \u03b1II domain.<\/jats:p>","DOI":"10.1034\/j.1600-0609.2000.80217.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T18:47:45Z","timestamp":1047408465000},"page":"53-58","source":"Crossref","is-referenced-by-count":2,"title":["Association of the \u03b1\u2010spectrin R28H mutation with allele \u03b1<sup>LELY<\/sup> and with \u03b1I\/\u03b1II domain haplotypes in three Brazilian families"],"prefix":"10.1111","volume":"64","author":[{"given":"Daniela S.","family":"Bass\u00e8res","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Bordin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando F.","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara T. O.","family":"Saad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,12,25]]},"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0609.2000.80217.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0609.2000.80217.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1600-0609.2000.80217.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,29]],"date-time":"2023-10-29T15:58:43Z","timestamp":1698595123000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1600-0609.2000.80217.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,1]]}},"alternative-id":["10.1034\/j.1600-0609.2000.80217.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1600-0609.2000.80217.x","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,1]]}}}