1.Expression of Nucleotide-binding Oligomerization Domain Receptor Protein 3 in Patients with Alzheimer's Disease and Vascular Dementia and Related Factors
Hua BAI ; Bo YANG ; Dejun YU ; Qifang ZHANG
Chinese Journal of Rehabilitation Theory and Practice 2016;22(3):306-309
Objective To explore the role of nucleotide-binding oligomerization domain receptor protein 3 (NLRP3) inflammasome in the pathogenesis of dementia. Methods 16 patients with with Alzheimer's disease (AD), 22 patients with vascular dementia (VD) and 20 healthy persons with similar age were detected the level of NLRP3 mRNA with RT-PCR in peripheral blood mononuclear cells January, 2014 to October, 2015. The serum level of interleukin (IL)-1βand IL-18 were detected with ELISA. The total number of white blood cells (WBC) and serum total calcium were collected. Single factor correlation analysis was performed between NLRP3mRNA and IL-1β, or IL-18, or WBC, or calcium concentration. Results The levels of NLRP3 mRNA ranged from high to low were as in AD group>VD group>the healthy group (q>11.48, P<0.05). The serum level of IL-1βwas higher in AD group than in the the healthy group (q=16.74, P<0.05), but not significantly different between VD group and the healthy group, nor between VD group and AD group (P<0.05). There was no signifi-cant difference about IL-18 among AD group, VD group and the healthy group (P<0.05). NLRP3 mRNA was positively correlated with the serum levels of IL-1β(r=0.64) and calcium (r=0.58) in AD group. There was no correlation between NLRP3 mRNA and IL-18 or WBC (P<0.05). Conclusion The expression of NLRP3 inflammasome may be related with the pathogenesis of AD, but little impact on the pathogene-sis of VD.
2.Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong.
Mingzhong TIAN ; Yanhua CAO ; Zhenting CHEN ; Lixia QI ; Aihua LIU ; Hongmei LI ; Qifang BO ; Qiji LIU
Chinese Journal of Medical Genetics 2020;37(9):962-967
OBJECTIVE:
To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province.
METHODS:
One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed.
RESULTS:
In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a detection rate of 7.01%. Among these, common variant sites for GJB2, SLC26A4 and GJB3 genes were c.235delC, IVS7-2A>G and c.538C>T, respectively. The variant frequencies of matrilinear inheritance deafness genes MT-CO1, MT-RNR1, MT-TL1 and MT-TS1 were 0.38%, 0.25%, 0.1% and 0.01%, respectively. Four newborns were diagnosed with deafness, among which one had unilateral hearing loss. Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county (51.76% vs. 40%), while the lowest was in Hekou county (30.77% vs. 56.41%).
CONCLUSION
The carrier rate of deafness-related variants in Dongying area is higher than other regions of China, which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry. Due to geographical and population aggregation factors, the proportion of deafness variants in the five counties of Dongying differed significantly. Above results may provide a guide for the prevention of congenital deafness in Dongying area.