摘要
目的对1例类孟买血型个体及其家系进行表型鉴定和分子机制研究。方法应用血清学方法检测ABO、H抗原；应用PCR技术扩增FUT1编码区序列。PCR产物经双酶切后进行直接测序分析。结果先证者红细胞与抗H血清不凝集，血清学鉴定为Bm“。直接测序显示其FUT1基因编码区序列第547552位A、G两碱基为纯合型缺失（CAGAGAG→CAGAG），第814位为A／G杂合，因此推测其单倍型分别为547—552delAG、547—552delAG和814A〉G复合突变。先证者母亲、姐姐、妹妹血型均为B型，母亲、姐姐的FUTl基因分别为814A／G杂合和547—552del／AG杂合，而妹妹为FUT1547—552del／AG杂合。先证者的FUT1547—552AG缺失和814A〉G复合突变均遗传自母亲。结论在类孟买血型个体中首次发现FUT1547—552delAO和814A〉G复合突变。
Objective To study genetic characteristics of an individual with para-Bombay phenotype and her family members. Methods ABO and H antigens were detected with routine serological techniques. The entire coding region of FUT1 gene was amplified by polymerase chain reaction （PCR）. PCR products was purified with enzymes digestion and directly sequenced. Results The RBCs of the proband did not agglutinate with H antibody. The proband therefore has a para Bombay phenotype （Bmh）. Direct sequencing indicated theFUT1 sequence of the proband contained a homozygous 547-552 del AG and heterozygous 814A 〉G mutation, which gave rise to two haplotypes of 547-552delAG,547 552delAG and 814A^G. The ABO blood type of the proband＇s mother and sisters were all B. Sequences of the FUT1 gene were 547-552 del AG,814A〉G heterozygous in the mother and elder sister, and 547-552 del AG heterozygous in her younger sister. The FUT1 547 552 del AG and 814 A〉G mutation of the proband was inherited from her mother. Conclusion A complex mutation of the FUT1 gene consisting of 547-552 del AG and 814 A^G has been identified in an individual with para-Bombay phenotype.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第2期165-167,共3页
Chinese Journal of Medical Genetics
