摘要
目的 研究类孟买型血型的分子基础。方法 采用血清学方法鉴定个体的红细胞表型 ,用聚合酶链反应 ( polymerase chain reaction,PCR)扩增类孟买型表型个体的 ABO基因第 6、7外显子、α1 ,2 岩藻糖基转移酶基因编码区序列和 Se基因编码区序列 ,PCR产物经割胶纯化后直接进行测序分析。结果 类孟买型的α1 ,2 岩藻糖基转移酶基因核苷酸第 5 4 7～ 5 5 2位中的两碱基 AG缺失 ( CAGAGAG→ CAGAG) ,导致阅读框架发生移码 ,提前形成终止密码。先证者父母为杂合缺失携带者。结论 α1 ,2
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 ploymerase 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
2004年第3期215-218,共4页
Chinese Journal of Medical Genetics
基金
浙江省医药卫生科学研究基金(2 0 0 3A0 1 3)~~
