一先天性白内障家系的致病基因突变分析及功能分析-mutation analysis and functional analysis of pathogenic gene in a congenital cataract family.docxVIP

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2018-06-03 发布于上海
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一先天性白内障家系的致病基因突变分析及功能分析-mutation analysis and functional analysis of pathogenic gene in a congenital cataract family.docx

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一先天性白内障家系的致病基因突变分析及功能分析-mutation analysis and functional analysis of pathogenic gene in a congenital cataract family

AbstractCongenital cataract is defined as an opacification of the eye lens which appear at birth or shortly after. It is the main cause of blindness in children all over the world. About one third infant lose their sight is caused by congenital cataract, and 50% of them are inherited. Congenital cataract is inherited as autosomal dominant traits which is the most common inherited form. Congenital cataract is a heterogeneous lens disorder in clinically and genetically. So far, more than 40 genetic loci have been linked to congenital cataracts, and at least 26 genes have been cloned, although these numbers are continually growing.To identify the disease-causing gene of a Chinese autosomal dominant congenital cataract(ADCC), candidate genes were analyzed and direct DNA sequencing was used to identify the mutation in this article. The purpose of this study is to explore the molecular genetic mechanism of autosomal dominant congenital cataract, and provide the effective theoretical basis for clinical prenatal diagnosis, prevention and treatment of this disease.Slit lamp examination showed nuclear cataract. Autosomal dominant inheritance pattern was confirmed in this family through pedigree analysis. Direct DNA sequence analysis identified a novel splicing mutation in intron 3 (IVS3+1 GA) of MIP gene. The mutation is co-segregated with the affected family members, and don’t carry the mutation in the unaffected individuals in the family and 110 unrelated normal controls. To investigate how the donor splice-site mutation affect the mRNA splicing, WT and mutant MIP minigene were construct into pcDNA3.1(+) vector, constructs were transiently transfected into HeLa cells, RT-PCR analysis, the donor splice-site mutation leads to deletion of exon 3 in mRNA coding by MIP gene.This study identified a novel donor splice-site mutation(c.606+1 GA) in MIP gene in a Chinese congenital cataract family, in vitro RT-PCR analysis show that the splicing mutation result in the deletion of exo