Identifying of the ERCC8 gene mutations in a pedigree with Cockayne syndrome / 中华检验医学杂志

Objective To identify the pathogenesis gene mutation of a pedigree with Cockayne syndrome.Methods The peripheral blood samples of the patient and his family members were collected and the genomic DNA was then extracted.Whole exome sequencing(WES)was performed for proband′s DNA.The disease-causing mutations were identified by bioinformatics analysis and pedigree analysis. Meanwhile,the mutations were confirmed by Sanger sequencing.Results Two novel mutations in ERCC8 gene,including c.400-2A >G and c.394_398delATGTA(p.L132fs)were identified in proband.The splicing mutation originated from his father and changed the splice acceptor site AG to GG, thus possibly caused alternative splicing.The c.394_398delATGTA(p.L132fs)frameshifting mutation was inherited from his mother.The proband′s sister also carried the same compound heterozygous mutation and had the same phenotype as proband.Conclusion The pathogenesis ERCC8 gene mutation of this pedigree with Cockayne syndrome was identified by using whole exome sequencing.

A novel variation of B allele is responsible for ABweak phonetype / 中国输血杂志

Objective To investigate the molecular basis of ABO gene in a patient with serologic ABO blood group discrepancy.Methods Serologic blood group identification,Coombs' test and antibody screening were detected with DG Gel Confirm cards,Neutral cards,Coombs cards by WADiana/8XT Compact Analyzer (from Diagnostic Grifols,S.A).The enhancer,promoter,exon 1 ～ 7 and their adjacent intron region of ABO gene were amplified by using polymerase chain reaction (PCR) method.Results The patient's red blood cells was determined as weak B phenotype showing two groups in gel and mixed field in tube with monoclonal anti-B,and A phenotype with monoclonal anti-A.DNA sequencing showed nine variants in ABO gene.One heterozygous variation in exon 6 (297A＞G) and eight heterozygous variations in exon 7 (467C＞T,526C ＞G,657C＞T,703G＞A,796C＞A,803G＞C,829G＞T 930G＞A) were identified and 829G＞T was the novel variant.Compared with Blood Group Antigen Gene Mutation Database,genotype of the patient was weak expression of A102/B101.Conclusion The novel variation of B allele is the main reason of Bweak phonetype in A102/B101 genotype.Serological and molecular biological detection help to understand the characteristics of blood group phenotype and genotype,provide the guidance for clinical transfusion strategies.