{"id":1083,"date":"2025-11-18T23:00:00","date_gmt":"2025-11-18T23:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=94d9b88f192645c5b656c5ee428f6b50"},"modified":"2025-11-18T23:00:00","modified_gmt":"2025-11-18T23:00:00","slug":"functional-analysis-of-four-splice-site-variants-including-a-novel-variant-on-antigen-expression-and-abo-subgroup-formation","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/18\/functional-analysis-of-four-splice-site-variants-including-a-novel-variant-on-antigen-expression-and-abo-subgroup-formation\/","title":{"rendered":"Functional analysis of four splice site variants, including a novel variant, on antigen expression and ABO subgroup formation"},"content":{"rendered":"Splice site variants within the ABO gene have the potential to impair ABO glycosyltransferase biosynthesis, leading to decreased expression of A or B antigens on the surface of red blood cells. This study characterized how four intron 6 splice site variants\u2014three in the A1 allele (c.374+4A>T, c.374+4A>G, c.374+5G>A) and one in the ABO*B.01 allele (c.374+2_374+3insT)\u2014affect ABO pre-mRNA splicing. A combination of serological, molecular genetic, bioinformatic, and minigene assays established a genotype-splicing-phenotype association model.","protected":false},"excerpt":{"rendered":"<p>Splice site variants within the ABO gene have the potential to impair ABO glycosyltransferase biosynthesis, leading to decreased expression of A or B antigens on the surface of red blood cells. This study characterized how four intron 6 splice site var&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-1083","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1083","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1083"}],"version-history":[{"count":25,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1083\/revisions"}],"predecessor-version":[{"id":1084,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1083\/revisions\/1084"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1083"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1083"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1083"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}