摘要
目的探讨一个类孟买家系的分子遗传学机制。方法采用血清学方法鉴定先证者及其父母的红细胞H抗原。采用高保真PCR扩增先证者及其父母的α1,2岩藻糖基转移酶(FUT1)基因编码区序列。PCR产物经TA克隆后进行测序、比对分析FUT1基因编码区序列。结果凝胶电泳分析证实成功扩增FUT1基因编码区序列;克隆后测序、比对分析发现先证者检出1种已知突变(h1nt547-552△AG),为h1/h1纯合子;先证者父母为H/h1杂合子。结论 FUT1基因突变以常染色体隐性遗传方式导致先证者类孟买血型的形成。
Objective To investigate the molecular genetics of a family with para-Bombay pheno- type. Methods Red blood cell phenotypes of the proband and his parents were characterized by serological techniques. The full coding region of alpha （1,2） fucosyltransferase （FUT1） gene of the proband and his parents were amplified by high-fidelity polymerase chain reaction （PCR） and sequenced. The sequences of the cloned FUT1 gene coding area were analyzed. Results Gel electrophoresis analysis showed that the full coding regions of FUT1 genes were successfully amplified by PCR. DNA sequencing analysis revealeda known mutation （hl nt547-552 △AG）in the proband, and the proband was hl/hl homozygote, while parents of the proband were found to be heterozygous carriers （H/h1）. Conclusion The para-Bombay phenotype of the proband was caused by an autosomal recessive mutation in FUT1 gene.
出处
《福建医科大学学报》
2013年第2期106-109,共4页
Journal of Fujian Medical University
关键词
ABO血型系统
岩藻糖基转移酶类
分子生物学
序列分析
基因
隐性
突变
系谱
克隆
分子
ABO blood-group system
fucosyltransferases
molecular biology
sequence analysis
genes, recessive
mutation
pedigree
cloning, molecular
