广州地区无偿献血者稀有血型Lu(a-b-)表型筛查及分子遗传背景研究  

Screening of rare blood group Lu(a-b-) in Guangzhou blood donors and the molecular genetic study

作　　者：莫春妍[1,2] 姬艳丽[2] 王贞[2] 付涌水[2] 罗广平[2] 王文敬[1] 

机构地区：[1]南方医科大学,广东广州510515 [2]广州血液中心临床输血研究所

出　　处：《中国输血杂志》2016年第6期612-615,共4页Chinese Journal of Blood Transfusion

基　　金：广州市血液安全重点实验室(201509010009)

摘　　要：目的了解广州地区无偿献血者中Lu(a-b-)表型的频率;通过检测Lutheran血型系统编码LU基因和In(Lu)表型相关红细胞转录因子编码KLF1基因,了解Lu(a-b-)表型的分子遗传背景。方法运用血型血清学方法对5 000名广州地区无偿献血者的Lub抗原进行筛查,对筛选到的Lub阴性个体,用抗球微柱凝胶卡进行Lu(ab-)表型确认,扩增Lu(a-b-)表型先证者LU基因15个外显子和KLF1基因3个外显子并进行测序,通过基因序列比对分析测序结果。结果在广州地区5 000名无偿献血者中筛选到2名Lu(a-b-)表型先证者。测序结果显示,2名先证者LU编码基因编码区及邻近内含子区域未发现任何杂合或纯合突变,进一步分析KLF1基因,发现先证者1携带KLF1基因外显子2的c.895C>G(p.His299Asp)杂合突变,先证者2携带KLF1基因外显子2的c.519_526dup CGGCGCC(p.Gly176Argfs*179)杂合突变。结论 Lu(a-b-)表型在广州地区献血者中的频率约为0.04%(2/5 000)。2例均为In(Lu)表型,其表型形成机制与KLF1基因突变相关。Objective To obtain the frequency data of the rare blood group Lu（ a- b-） in blood donors form Guangzhou and conduct the molecular genetic study through sequencing analysis of the Lutheran blood group encoding LU gene and the erythroid transcription factor KLF1 gene. Methods Five thousands of blood donors from Guangzhou were screened for Lubantigen by monoclonal anti- Lub using serological methods and confirm the Lu（ a- b-） phenotype using the Coombs microcolumn gel for the Lubnegative individuals. Fifteen exons of LU gene and 3 exons of KLF1 gene were amplified and sequenced in the individuals with Lu（ a- b-） phenotype. Result Two donors were identified with Lu（ a- b-） phenotype.No homozygous or heterozygous mutation was found in exons and adjacent introns sequence of the LU gene. Further analysis of the KLF1 gene showed that a heterozygous point mutation（ c. 895 C 〉G,p. His299Asp） and a heterozygous duplication mutation（ c. 519_526dup CGGCGCC,p. Gly176 Argfs ＊ 179） were identified in each donor,respectively. Conclusions The frequency of the Lu（ a- b-） phenotype in blood donors from Guangzhou is 0. 04%（ 2 /5000）. Two donors of Lu（ a- b-） phenotype are identified as In（ Lu） related to the mutation in the KLF1 gene.

关 键 词：Lutheran血型 表型频率 LU基因 KLF1基因 

分 类 号：R457.11[医药卫生—治疗学]