FUT1基因突变个体的表型及分子遗传学研究OACSTPCD
Study on Phenotype and Molecular Genetics of the FUT1 Mutation Individual
目的 研究FUT1基因突变的分子生物学基础.方法 通过常规血清学方法和基因分型方法检测先证者及其家系成员的红细胞血型,用PCR方法扩增FUT1基因并测序,测序结果与参考序列(GeneBank:Z69587)比对分析.结果 测序结果显示,先证者为FUT1基因C658T纯合突变,先证者的父母、姐姐和儿子为杂合突变,妻子和妹妹无突变.结论 FUT1基因C658T突变是导致H抗原缺失的原因之一.
Objective To study molecular biology of the FUT1 gene mutation. Methods The RBC blood group of proband and his family members was detected by serological and genotyping methods, the FUT1 gene was amplified by polymerase chain reaction( PCR ) and sequenced, and align the results to the reference sequences( GeneBank: Z69587 ). Results The sequencing results showed a homozygous mutation of C658T of the FUT1 gene in the proband, heterozygous mutation in his pare…查看全部>>
何保仁;申卫东;莫秋红;杨亚丽;刘学军;李恒聪
广西南宁中心血站,南宁市,530007广西南宁中心血站,南宁市,530007广西南宁中心血站,南宁市,530007广西南宁中心血站,南宁市,530007广西南宁中心血站,南宁市,530007广西南宁中心血站,南宁市,530007
生物科学
FUT1基因测序基因突变
FUT1 geneSequencingMutation
《广西医学》 2013 (1)
32-34,3
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