Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with autosomal recessive polycystic kidney disease (ARPKD).@*METHODS@#Fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple. Following extraction of genomic DNA, genetic testing was carried out.@*RESULTS@#The fetus was found to carry compound heterozygous variants of the PKHD1 gene, namely c.5336A>T (p.N1779I) and c.9455delA (p.N3152Tfs*10), which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.5336A>T and c.9455delA variants of the PKHD1 gene probably account for the ARPKD in the fetus. Above results have enabled genetic counseling and prenatal diagnosis for the couple.

Genetic diagnosis and mutation site analysis of fructose 1, 6 diphosphatase deficiency / 临床儿科杂志

Objectives To explore the genetic diagnosis of fructose 1,6 diphosphatase deficiency and analysis of mutation sites of its pathogenic genes. Methods The clinical data and the related results of gene panel screening in one child with fructose 1, 6 diphosphatase (FBPase) deficiency were retrospectively reviewed. Results The 2-year-old girl suffered repeated infection, nausea, vomiting, mental illness, and drowsiness, accompanied by intermittent convulsions. Blood biochemical tests sμggested hypoglycemia and acidosis.The FBP1 gene had a missense mutation,c.355G>A,p.Asp119Asn(isozygoty).Both her parents carried the locus variation (heterozygous). Conclusions Fructose 1, 6 diphosphatase deficiency should be considered when child with hypoglycemia after repeated infection, acidosis, and ketosis.

Observation on protection by immunization with recombinant Ferritin vaccine of Echinococcus granulosus (Chinese strain) / 中华肝胆外科杂志

Objective To investigate protection by immunization with recombinant Ferritin vaccine of Echinococcus granulosus against protoscolices.Methods ICR mice were randomized into 3groups of 12 mice in each.The mice in group A and B were immunized three times with an interval of two weeks and those in group C did nothing.The animals in all the 3 groups were challenged with 1100 protoscolices intraperitoneally on the 8th week.Serum samples were collected before each inoculation and challenge injection.Seven months later, all the mice were killed and examinated for hydatid cysts.Result The number of cysts was significantly lower in the group A than in group B and C (P＜0.05).The levels of protection afforded were found to be 73% and 85%, respectively.Meanwhile,the number of cysts was markedly lower in group B than in group C(P＜0.05).The rate of protection afforded was 42%.Conclusion Recombinant Ferritin vaccine of Echinococcus granulosus shows partial immune protection.Therefore, it might be a suitable candidate for cocktail vaccine study in the future.