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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 understand the frequency of Lu (ab-) phenotypes in unpaid blood donors in Guangzhou and to identify the KLF1 gene by detecting the LUTheran blood group coding LU gene and the In (Lu) phenotype-associated erythrocyte transcription factor Molecular genetic background. Methods Blood samples were collected from 5 000 Lubao patients in Guangzhou for determination of Lub (ab-) phenotype by screening serotypes of Lub negative individuals. 15 exons of LU gene and 3 exons of KLF1 gene of Lu (ab-) phenotype proband were sequenced and the sequencing results were analyzed by gene sequence alignment. Results Two Lu (a-b-) phenotypic probands were screened from 5,000 unpaid blood donors in Guangzhou. Sequencing results showed that there was no heterozygous or homozygous mutation in coding region and adjacent intron region of LU probands. Further analysis of KLF1 gene revealed that proband 1 carries c of exon 2 of KLF1 gene. 895C> G (p.His299Asp) heterozygous mutation, proband 2 carrying a c.519_526dup CGGCGCC (p.Gly176Argfs * 179) heterozygous mutation of exon 2 of the KLF1 gene. Conclusion The frequency of Lu (a-b-) phenotype in blood donors in Guangzhou is about 0.04% (2/5 000). Both cases were In (Lu) phenotype, the phenotype of which was related to KLF1 gene mutation.