Study on the mutation status of DNA polymeraes genes inF anconi anemia family conset llation

LIU Yu; WANG Peichang

doi:10.3969/j.issn.1002-7386.2016.19.001

Abstract：Objective Through analysing the mutation status of DNA polymerase genes in Fanconi anemia ( FA ) family constellation to observe initially its stable mutation sites in order to establish basis further for determining the risky mutation site of predisposing genes of the disease.Methods The 15 family menbers of FA family constellation were enrolled in the study.DNA polymerase gene family members including POLA,POLB,POLD1,POLD2,POLE and POLG of FA proband were analyzed by gene sequencing to screen meaningful mutation sites,and DNA of the family members was analyzed by direct sequencing in plus sense mutation region of the proband.Results There were four mutation sites in exon of DNA polymerase in children patients with FA in which POLD1 19p13.3~13.4 EXON2 50403975 G>A,the codon was changed from CGU to CAU,and coding amino acid was changed from glutamic acid to glycine,moreover, POLE1 12p24.3 EXON43-44 132688389 A>G, the codon was changed from GAG to GGG,and coding amino acid was changed from glutamic acid to glycine,besides, POLE1 12p24.3 EXON43-44 132688389 G>A in patient's mother and adoptive grand-father,and there appeared POLE1 EXON43-44 132688389 A>G in patient's adoptive grand-mother,adoptive grand-father, grandmother,father,mother,the second uncle,the 4th uncle,the first aunt,the second aunt,two sisters in-law.Conclusion Through the sequencing for two gene mutation sites of FA family members that have been selected, it is indicated that the family members take along with the two gene mutation sites generally.Thus,the two gene mutation sites should be payed much attention to,besides,which may be the stable mutation sites of FA.