[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype].
[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype].
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发表时间：
2004-06
期刊：
影响因子：
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通讯作者：
F. Zhu;Xianguo Xu;X. Hong;Li-xing Yan
中科院分区：
文献类型：
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作者：
F. Zhu;Xianguo Xu;X. Hong;Li-xing Yan
目的探讨类孟买表型的分子遗传学基础。方法采用血清学方法对先证者的红细胞表型进行鉴定。采用聚合酶链反应（PCR）技术从先证者基因组DNA中扩增ABO基因第6、7外显子、α（1，2）岩藻糖基转移酶（FUT 1）基因和FUT 2基因的全部编码区。切下PCR产物并从琼脂糖凝胶纯化，并直接测序。结果先证者存在AG基因547-552位缺失纯合等位基因，导致阅读移码和提前终止密码子。先证者父母均为杂合子携带者。结论α（1，2）岩藻糖基转移酶基因第547-552位两个碱基缺失可能导致类孟买表型。
OBJECTIVE To probe into the molecular genetics basis for para-Bombay phenotype. METHODS Red blood cell phenotype of the proband was characterized by serological techniques. Exons 6 and 7 of ABO gene, the entire coding region of alpha(1,2) fucosyltransferase (FUT1) gene and FUT2 gene were amplified by polymerase chain reaction (PCR) from genomic DNA of the proband respectively. The PCR products were excised and purified from agarose gels and were directly sequenced. RESULTS AG at 547-552 deletion homozygous allele was found in the proband, which caused a reading frame shift and a premature stop codon. Parents of proband were heterozygous carriers. CONCLUSION Two base deletion at position 547-552 of alpha (1,2) fucosyltransferase gene may cause para-Bombay phenotype.