Gene analysis of a family gene report of hepatolenticular degeneration
Objective:To screen the ATP7B pathogenic gene mutation sites in the family line of a patient with hepatomegaly by ATP7B gene exon mutation screening technology,and to explore the relationship between genotype and phenotype.Methods:The clinical data of a patient with hepatolenticular degeneration(HLS)admitted to the First Affiliated Hospital of Anhui University of Chinese Medicine were collected and their clinical phenotypes were analyzed.At the same time,peripheral blood DNA of the patient and other members of the family was extracted,and ATP7B gene exon mutation screening technology was used to construct a library,and adapters were added for PCR amplification,and then illumina machine was used for sequencing to screen the ATP7B gene exon mutation sites of the proband and its family members.Results:All the 4 confirmed hepatollenular degeneration patients in the family had liver damage to varying degrees,but only the proband had kidney damage and neurological symptoms,and the proband and his fourth brother had K-F ring positive.ATP7B gene detection found that p.V1216M(c.3646G＞A)and p.A874V(c.2621C＞T)heterozygous mutations were found in all patients with hepatolenticular degeneration in the family.The proband parents and other family members carried only the p.A874V(c.2621C＞T)or p.V1216M(c.3646G＞A)mutation.Conclu-sion:In this study,although the proband and the other three confirmed patients with hepatolenticular degeneration had the same gene mutation site and type,there were differences in liver damage,kidney damage,neurological symptoms and the degree of K-F ring in the cornea,suggesting that genotype may not completely determine the clinical phenotype of patients with hepatolenticular degener-ation.There are also many factors such as gender,age,diet,exercise and modification factors,which may provide a certain reference for formulating and adjusting the treatment and prevention methods of hepatolenticular degeneration in the future.
万方数据
维普
