Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software.@*RESULTS@#Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5).@*CONCLUSION@#The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.

Typing analysis and detection of HPV for condyloma acuminata tissues of perianal / 中华实验和临床病毒学杂志

Objective@#To learn the prevalence of HPV infection and its genotypes distribution in perianal warts, discuss the association between HPV infection and age and gender, and assess the methodology performance of PCR-reverse dot blot(PCR-RDB) to detect HPV.@*Methods@#HPV genotypes were detected in 316 paraffin specimens of confirmed or suspected perianal condyloma acuminata(CA) patients, including 58 cases for HPV DNA sequencing.@*Results@#The HPV infection rate in 316 patients was 81.6%. The first fifth genotypes of single HPV infection were HPV11, 6, 18, 16 and 33. HPV6+ 11, HPV6+ 11+ 16 and HPV6+ 18 were more common in mixed infection. The highest HPV infection rate was from the males aged below 35 years. Regarding the sequencing result as a gold standard, the sensitivity, specificity and accuracy of PCR-RDB in HPV were 92.31%, 89.47% and 91.38% respectively.@*Conclusions@#The proportion of HPV crissum infection in young male was quite high, the major pathogenic types were HPV 11, 6, 18, 16 and 33. The PCR-RDB method can meet the needs of clinical diagnosis of HPV.