[1] 陈发文,谢海花,杨晓俊,等.一例B303亚型的鉴定及家系遗传分析[J].中华医学遗传学杂志,2018,35(3):440-442. [2] 赵媛,李代红,艾丽萍.易漏检的B311亚型血清学及分子生物学分析[J]. 中国输血杂志,2021,34(5):522-525. [3] THURESSON B,CHESTER M A,STORRY J R,et al.ABO transcript levels in peripheral blood and erythropoietic culture show different allele-related patterns independent of the CBF/NF-Y enhancer motif and multiple novel allele-specific variations in the 5'-and 3'-noncoding regions[J]. Transfusion,2008,48(3):493-504. [4] 苏巧燕,沈志辉,张乃淙,等.B3亚型的鉴定及其对临床输血的意义[J]. 军事医学,2019,43(5):397-400. [5] LIN-CHU M,BROADBERRY R E,CHIOU P W.The B3 phenotype in Chinese[J]. Transfusion,1986,26(5):428-430. [6] PATNAIK S K,HELMBERG W,BLUMENFELD O O.BGMUT database of allelic variants of genes encoding human blood group antigens[J].Transfus Med Hemother,2014,41(5):346-351. [7] TAKAHASHI Y,ISA K,SANO R,et al.Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3,respectively[J]. Vox Sang,2014,107(2):171-180. [8] 朱于莉,金肖君,胡彬,等.青岛及周边地区 A3、B3亚型的分子机制研究[J].医学分子生物学杂志,2017,14( 2) : 73-77. [9] CAI X H,JIN S,LIU X,et al.Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles[J]. Transfusion,2013,53(11pt2):2910-2916. [10] ODA A,ISA K,OGASAWARA K,et al.A novel mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a blood donor with the Am B phenotype[J]. Vox Sang,2015,108(4):425-427. [11] COOLING L.Polylactosamines,there's more than meets the“Ii”:a review of the I system[J]. Immunohematology,2010,26(4):133-155. [12] 黄小娟,仝非,杨卫华.86例患者ABO血型正反定型不符的原因分析及鉴定[J].临床血液学杂志,2020,33(12): 869-871. [13] TWU Y C,HSIEH C Y,LIN M,et al.Phosphorylation status of transcription factor C/EBPalpha determines cell-surface poly-LacNAc branching (I antigen) formation in erythropoiesis and granulopoiesis[J]. Blood,2010,115(12):2491-2499. [14] 杰夫•丹尼尔著. 朱自严主译.人类血型[M]. 北京:科学出版社,2007:8-116. [15] 张韦,栾希英.1例B3亚型的分子机制及家系调查[J].临床输血与检验,2016,18(4):319-322. [16] Cai X,Li F,Lei H,et al.p.R180C mutation of glycosyltransferase B leads to B subgroup,an in vitro and in silico study[J/OL]. Vox Sang,2018. https://doi.org/10.1111/vox.12655. [17] SANO R,KUBOYA E,NAKAJIMA T,et al.A 3.0-kb deletion including an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene in an individual with the Bm phenotype[J]. Vox Sang,2015,108(3):310-313. [18] YING Y,HONG X,XU X,et al.A novel mutation +5904 C>T of RUNX1 site in the erythroid cell-specific regulatory element decreases the ABO antigen expression in Chinese population[J/OL]. Vox Sang,2018. https://doi.org/10.1111/vox.12676. [19] ANDREOLI V,TRECROCI F,LA RUSSA A,et al.Presenilin enhancer-2 gene:identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease[J]. Alzheimers Dement,2011,7(6):574-578. [20] COMBES P,KAMMOUN N,MONNIER A,et al.Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease[J]. Ann Neurol,2012,71(1):146-148. [21] 王静,顾玉微,游国岭,等.ABO基因调控区变异对其表型的影响[J]. 中国输血杂志,2019,32(9):847-851. |