ABSTRACT
OBJECTIVE: To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou. METHODS: Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray. RESULTS: In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time. CONCLUSION: The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.
Subject(s)
Coloboma/genetics , Connexins , Heterozygote , Prenatal Diagnosis , Renal Insufficiency/genetics , Vesico-Ureteral Reflux/genetics , China , Coloboma/diagnosis , Connexin 26 , Connexins/genetics , DNA Mutational Analysis , Deafness/genetics , Female , Fetus , Homozygote , Humans , Infant, Newborn , Mutation , Phenotype , Pregnancy , Renal Insufficiency/diagnosis , Sulfate Transporters/genetics , Vesico-Ureteral Reflux/diagnosisABSTRACT
OBJECTIVE: To search the mechanism of Huaisanzhen in treating the nerve root pain caused by protrusion of lumbar intervertebra disc. METHODS: Sixty male SD rats were randomly divided into a normal control group, a sham operation control group, a model control group, an aspirin-DL-lysine control group, a routine body acupuncture group, and a Huaisanzhen treatment group. The aspirin-DL-lysine control group, the routine body acupuncture group and the Huaisanzhen treatment group were treated by aspirin-DL-lysine through intramuscular injection, routine acupuncture and Huaisanzhen therapy, respectively. The pain threshold and the content of brain 5-HT in each group were determined. RESULTS: The pain threshold significantly increased in the Huaisanzhen treatment group as compared with that in the model control group at the same hour points (P < 0.05). And at the 30 min, the pain threshold in the aspirin-DL-lysine control group and the routine body acupuncture group was significantly higher than that in the model control group, and the Huaisanzhen treatment group was significantly higher than that in the aspirin-DL-lysine control group and the routine body acupuncture group (all P < 0.05). The 5-HT contents at the same time in the Huaisanzhen treatment group were higher than those of the model control group and the aspirin-DL-lysine control group (P < 0.01). The 5-HT content at 30 min in the Huaisanzhen treatment groups was significantly higher than that of the routine body acupuncture group (P < 0.05). CONCLUSION: The analgesic effect of Huaisanzhen treatment is closely related to increase of 5-HT content in the brain.