Alleles of the LAN blood group system: molecular and serologic investigations
Alleles of the LAN blood group system: molecular and serologic investigations
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DOI：
10.1111/trf.12285
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发表时间：
2014-02-01
期刊：
影响因子：
2.9
通讯作者：
Zelinski, Teresa
中科院分区：
文献类型：
--
作者：
Reid, Marion E.;Hue-Roye, Kim;Zelinski, Teresa
背景：抗Lan抗体与溶血性输血反应和胎儿及新生儿溶血性疾病有关。LAN血型系统由ABCB 6编码，其基因产物ABCB 6属于ATP结合盒（ABC）外排转运蛋白超家族。本研究的目的是通过分析来自14名（13名无关）受试者的DNA来表征额外的等位基因，这些受试者的红细胞在血清学上被定义为Lan-、Lan（+w）/-或Lan（+w）。使用位于ABCB 6编码外显子两侧的内含子引物进行聚合酶链反应扩增。结果：在研究对象中，我们确定了5个等位基因（一个具有无义改变，三个具有移码，一个具有错义改变），其编码Lan-表型和四个等位基因（具有错义变化）编码Lan（+w）或Lan（+w）/-表型。在我们鉴定的9个等位基因中，3个是新的，6个是以前在dbSNP中记录的。在这六个等位基因中，只有一个等位基因先前与Lan阴性相关。迄今为止，已经描述了19个编码Lan-或Lan（+w）/-或Lan（+w）表型的ABCB 6等位基因。
BACKGROUND: Anti-Lan has been implicated in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The LAN blood group system is encoded by ABCB6, whose gene product, ABCB6, belongs to the ATP-binding cassette (ABC) efflux transporter superfamily. The purpose of this study was to characterize additional alleles by analyzing DNA from 14 (13 unrelated) subjects whose red blood cells were serologically defined as Lan-, Lan(+w)/-, or Lan(+w).STUDY DESIGN AND METHODS: Genomic DNA was extracted from blood samples recovered from liquid nitrogen storage. Intronic primers flanking each of the ABCB6 coding exons were used for polymerase chain reaction amplification. Amplicons were sequenced and analyzed by standard methods.RESULTS: Among the study subjects, we identified five alleles (one with a nonsense change, three with frame-shifts, one with a missense change) that encode the Lan-phenotype and four alleles (with missense changes) encoding either Lan(+w) or Lan(+w)/-phenotypes.CONCLUSIONS: Of the nine alleles we identified, three were novel and six were previously documented in the dbSNP. Of these six, only one allele was previously associated with Lan negativity. To date, 19 ABCB6 alleles that encode Lan- or Lan(+w)/-, or Lan(+w) phenotypes have been described.