3例类孟买血型的分子遗传机制研究  

Molecular and Genetic Mechanism of Three Cases of Para-Bombay Blood Group

作　　者：陈发文[1,2] 谢海花 杨晓俊 孙嘉峰 林力红 陈陆飞[3] 蔡鹏威[2] 

机构地区：[1]福建医科大学省立临床医学院,福建福州350001 [2]福建省立金山医院,福建福州350028 [3]福建省妇幼保健院,福建福州350001

出　　处：《中国实验血液学杂志》2017年第6期1793-1798,共6页Journal of Experimental Hematology

摘　　要：目的:探讨类孟买血型个体的分子遗传机制。方法:采用常规血清学方法对先证者及其家系成员血液标本进行血型鉴定,对唾液标本进行ABH血型物质的检测;利用PCR扩增3例先证者及家系成员的FUT1基因编码区和ABO血型基因第6、7外显子编码区,对PCR产物进行基因分型和FUT1基因直接测序。结果:3例先证者均为类孟买血型。直接测序结果显示,先证者1的FUT1基因为第328位碱基G/A杂合突变、第547位碱基AG缺失突变的杂合型,FUT1基因分型为h1hnew2杂合;其父亲为单链第547位碱基AG缺失,其母亲为单链328位碱基G/A杂合突变,两者均不是类孟买血型;先证者2和3的FUT1基因为第547位碱基AG缺失突变,第880TT缺失突变的杂合型,FUT1基因分型为h1h2杂合;结论:通过分子生物学技术可以检测FUT1基因不同位点双碱基的缺失杂合和单链缺失突变杂合,进而探讨类孟买血型的分子遗传机制。Objective： To explore molecular and genetic mechanism of 3 cases of para-Bombay blood group. Methods：The bood samples of proband and family members were selected to identify their blood groups with conventional serologic methods,and salivary components carrying the ABH antigens were detected. The coding regions of FUT1 as well as exon 6 and 7 of the ABO gene were amplified using polymerase chain reaction（ PCR）,and the FUT1 gene was directly sequenced. Results：All the 3 cases of proband were confirmed as para-Bombay blood group. Direct sequencing revealed h new2（ nt328 G→A） and h1（ nt 547 △AG） in FUT1 gene of the proband 1,and FUT1 genotype was h1/h new2. However,the genotypes of his parents were H/h1 and H/h new2,which were non-Bombay individuals. The FUT1 genotypes of proband 2 and 3 were h1 h2（ nt547 △AG） and h1 h2（ nt 880 △TT）,respectively. Conclusion： The technology of molecular biology can be used to detect the base deletion mutations in FUT1 gene,which contributes to the analysis of molecular and genetic mechanism of para-Bombay blood group.

关 键 词：类孟买血型 FUT1基因 H血型系统 基因型 

分 类 号：R457.11[医药卫生—治疗学]