摘要
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 aligned 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 parents, older sister and son, and no mutation in his wife and younger sister, respectively. Conclusion The C658T mutation of FUT1 gene is one of the causes of H antigen deficiency.
出处
《广西医学》
CAS
2013年第1期32-34,共3页
Guangxi Medical Journal
