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1.
Journal of Public Health and Preventive Medicine ; (6): 77-82, 2023.
Artigo em Chinês | WPRIM | ID: wpr-965188

RESUMO

Objective Tto analyze the spatial distribution and characteristics of the national AIDS/HIV epidemics from 2009 to 2020 to discover its distribution, aggregation, and hot spots, and provide corresponding suggestions for AIDS prevention and control. Methods Spatial autocorrelation analysis, hot spot analysis, and Kriging interpolation prediction were used to describe, analyze, and predicting the spatial distribution of AIDS epidemics across the country. Results The national AIDS incidence and mortality rate increased yearly, but the growth rate shows a downward tendency with uneven spatial distribution,focusing on the southwest and northwest regions; the average annual incidence rate of AIDS ( Moran's I> 0, P 0, P “high-high” clusters of AIDS incidence; Sichuan, Yunnan, Guangxi,Hunan,Xinjiang and Guizhou were the areas with “high-high” clusters of average annual mortality. The “hot spot” areas were mainly concentrated in the southwestern part of China, and the “cold spot” areas were mainly concentrated in the eastern coastal and northern parts of China; Kriging interpolation predicted that Xinjiang would be the new hot spot area for future epidemics. Conclusion The spatial distribution of AIDS in China is uneven, showing spatial aggregation, hot spots and cold spots coexist, and the high-risk areas will continue to expand in the future.So the prevention and control work should be carried out in a targeted and localized manner.

2.
Chinese Journal of Medical Genetics ; (6): 514-518, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335093

RESUMO

<p><b>OBJECTIVE</b>To analyze the phenotype-genotype correlation of MYH7-V878A mutation.</p><p><b>METHODS</b>Exonic amplification and high-throughput sequencing of 96-cardiovascular disease-related genes were carried out on probands from 210 pedigrees affected with hypertrophic cardiomyopathy (HCM). For the probands, their family members, and 300 healthy volunteers, the identified MYH7-V878A mutation was verified by Sanger sequencing. Information of the HCM patients and their family members, including clinical data, physical examination, echocardiography (UCG), electrocardiography (ECG), and conserved sequence of the mutation among various species were analyzed.</p><p><b>RESULTS</b>A MYH7-V878A mutation was detected in five HCM pedigrees containing 31 family members. Fourteen members have carried the mutation, among whom 11 were diagnosed with HCM, while 3 did not meet the diagnostic criteria. Some of the fourteen members also carried other mutations. Family members not carrying the mutation had normal UCG and ECG. No MYH7-V878A mutation was found among the 300 healthy volunteers. Analysis of sequence conservation showed that the amino acid is located in highly conserved regions among various species.</p><p><b>CONCLUSION</b>MYH7-V878A is a hot spot among ethnic Han Chinese with a high penetrance. Functional analysis of the conserved sequences suggested that the mutation may cause significant alteration of the function. MYH7-V878A has a significant value for the early diagnosis of HCM.</p>


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Sequência de Aminoácidos , Povo Asiático , Genética , Miosinas Cardíacas , Genética , Cardiomiopatia Hipertrófica , Genética , Estudos de Associação Genética , Métodos , Genótipo , Mutação , Genética , Cadeias Pesadas de Miosina , Genética , Linhagem , Fenótipo
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