遗传学
生物
基因
外显子
融合基因
复合杂合度
假基因
基因簇
分子生物学
突变
基因组
作者
Ji-Wei Huang,Xuan Shang,Ying Zhao,Ren Cai,Xinhua Zhang,Xiaofeng Wei,Fu Xiong,Xiangmin Xu
标识
DOI:10.1016/j.bcmd.2013.01.013
摘要
Genetic recombination has been implicated as a mechanism that drives mutagenesis in the human globin gene clusters, either as a result of unequal crossover or gene conversion. In this paper, a novel fusion gene was identified in a Chinese girl with hemoglobin H disease. The proband's father was a compound heterozygote for the common -α(4.2) deletion and this fusion gene, and her mother was heterozygous for the common --(SEA) deletion (--(SEA)/αα). Both her parents had a hypochromic and microcytic red cell phenotype and a normal hemoglobin level. Molecular studies revealed a compound heterozygote for the --(SEA) deletion and this novel fusion gene and the patient had the clinical features of classic hemoglobin H disease. Sequence analysis revealed that the mutant gene was the result of a fusion between the α2 and ψα1 genes. The recombination began at exon 3 of α2 gene, crossing with exon 3 of the ψα1 gene. With this recombination, the conservative 3'UTR of the α2 gene was changed, and an extensive transcript with a new signal 1048bp 3' to the terminating codon was found. The abnormal transcripts of the fusion gene read through the intergenic sequence.
科研通智能强力驱动
Strongly Powered by AbleSci AI