类孟买血型基因分析及1种FUT1新无效等位基因的发现  

Analysis of FUT1 and FUT2 genes in 16 para-bombay individuals and identification of a novel null FUT1 allele

作　　者：池泉[1] 张爱[1] 任本春[1] 郭永建[1] 

机构地区：[1]福建省血液中心福建医科大学输血医学教研室,福建福州350004

出　　处：《中国输血杂志》2012年第11期1152-1155,共4页Chinese Journal of Blood Transfusion

基　　金：福建省自然科学基金(2007J0261)

摘　　要：目的分析类孟买血型基因及H抗原缺乏血型的分子机制,了解FUT1与FUT2基因间的连锁遗传关系。方法用血清学方法鉴定H抗原缺乏的12名献血者及4名患者的类孟买血型,采用直接测序和克隆测序的方法分析类孟买血型个体的FUT1和FUT2基因。结果在16名类孟买血型个体者中检出3种已知的FUT1无效等位基因(h1,nt547-552△ag;h2,nt880-882△tt;h3,nt658c→t)和1种新的FUT1无效等位基因(h9,nt424c→t)。FUT1基因型分别为h1/h1 9例,h1/h2 4例,h3/h2、h2/h2及h1/h9各1例。在检出的FUT1无效等位基因中,h1和h2等位基因分别为68.75%(23/32)和21.87%(7/32)。所有FUT2等位基因均存在纯合的nt357c→t同义突变,在具有h2等位基因的个体中,都检出nt716g→a突变(Se357,716);未发现FUT2无效等位基因。结论发现1种引起H抗原缺乏血型的新FUT1无效等位基因;证实h1和h2为福建地区类孟买血型个体的主要流行基因,支持FUT1和FUT2基因存在连锁遗传的观点。Objective To analyze the genetic characteristics of the para-Bombay individuals in Fujian province, and to prove the hypothesis that there is genetic linkage between FUT1 and FUT2. Methods The para-Bombay phenotypes were identified by serological analysis. The sequences of FUT1 and FU72 gene in pant-Bombay individuals were analyzed by direct sequencing and cloning sequencing methods. Results Four null alleles （hl： nt547-552Aag, h2： nt880-882△tt, h3： nt658c→t,hg： nt424c→t） were observed in 16 para-bombay individuals. The FUT1 genotypes of h1/hl ,h1/h2, h3/h2, h2/h2, h1/h9 were detected in 9 individuals ,4,1,1, and 1 of 16 individuals, respectively. Two prevalent h alleles, hl and h2,with the frequency of 68.75% （23/32）and 21.87% （7/32） ,were predominated in h alleles leading to H deficiency. The mutation of nt357c→t was detected in all FUT2 gene while the mutation of nt716g→a was detected in the individu- als with h2 gene. Conclusion A novel h allele （hg） with a nueleotide 424C 〉 T mutation was discovered. The previous observation that hl and h2 alleles are predominant in H deficient individual in Fujian was confirmed in this study. The fact that the Se^357.716 is only found in individual with h2 gene confirms the previous hypothesis that there is genetic linkage between the FUT1 and FUT2.

关 键 词：H抗原 类孟买血型 FUT1基因 FUT2基因 无效等位基因 基因连锁 

分 类 号：R457.11[医药卫生—治疗学]