Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a child with congenital heart disease (CHD).@*METHODS@#Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.@*RESULTS@#The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.@*CONCLUSION@#The 13q34 region probably contains susceptibility genes for CHD.

Safety of prophylactic HPV vaccine:a systematic review / 中国实用妇科与产科杂志

OBJECTIVE: To systematically review the safety of HPV vaccine among healthy women.METHODS: Primary literature was retrieved from PubMed,CNKI and CBM.Data were searched for randomized controlled trials(RCTs)about safety of HPV vaccine from inception to December 2018.Two investigators screened literature according to the inclusion and exclusion criteria,extracted data,and assessed methodological quality of included studies independently.RESULTS: Totally 16 studies,17 RCTs and 75164 participants were included. A higher incidence of solicited injection-site symptoms(pain,redness)was observed in the vaccine group compared to control group,but these symptoms were tolerable and self-cured.General solicited symptoms(headache,fatigue,etc.)were slight,and there was no significant difference in the incidence between the two groups.Serious adverse events were similar in both groups,and pregnancy outcomes did not differ between the two groups.CONCLUSION: The three types of prophylactic HPV vaccine are safe.The main adverse event is local symptom,which is well tolerated,so the vaccines can be safely used.

The correlation research between the polymorphism of genotype of site-1296 in alpha2A-AR receptor gene and the susceptibility of vestibular function / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the correlation between the polymorphism of genotype of site-1296 in alpha2A-AR receptor gene and the susceptibility of vestibular function.@*METHOD@#Ninety-four blood samples were collected from pilot cadets, consisting of susceptible and tolerance groups to vestibular function. Genomic DNA was isolated, and the coding region of alpha2A-AR receptor gene was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by gene sequencing. Gene frequency was calculated, and, the coincidence between the polymorphism of alpha2A-AR receptor gene in the groups and Hardy-Weinberg balance was evaluated. The allele frequency of the two groups was compared by Chi square test.@*RESULT@#G/C polymorphism was existed in Site-1296 of alpha2A-AR gene regulation zone, including GG, GC, CC. The express of GG Genotype in susceptible group exceeded that of the other group. There were significance differences in both genotype constituent ratio and alleles frequency of the two groups.@*CONCLUSION@#The polymorphism of genotype of site-1296 in alpha2A-AR receptor gene is possibly correlated with the susceptibility to vestibular function.