Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection.@*METHODS@#DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 β-thalassemia point mutations which were common gene mutions in China.@*RESULTS@#There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of β-thalassemia and 29 cases (7.07%) carried gene mutations of complex αβ-thalassemia syndrome. The mutations of α-thalassemia were involved with --@*CONCLUSION@#The most common genetic mutations are --

Methodological Evaluation of Microarray in the Detection of α-Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.@*METHODS@#Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia.@*RESULTS@#Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively.@*CONCLUSION@#The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.

Risk factors and prevalence of cardiovascular disease of rural residents in Xianghe of Hebei province / 中华心血管病杂志

<p><b>OBJECTIVE</b>To observe the risk factors and prevalence of cardiovascular disease, and predict the 10-year risk of ischemic cardiovascular disease (ICVD) of a rural residents in Xianghe of Hebei province.</p><p><b>METHODS</b>Two thousand five hundred and thirty two adults ( ≥ 35 years old) were surveyed at internal medicine outpatient department of Xianghe asthma hospital in Hebei province by face-to-face interview, physical examination and biochemical test. Subjects aged 35 to 59 were also evaluated using the National 10-year Risk Assessment for ICVD.</p><p><b>RESULTS</b>The prevalence of stroke and coronary heart disease was 2.2% (56/2532) and 6.9% (176/2532) respectively, the age- and sex-standardized prevalence was 1.3% and 5.9% respectively. The prevalence of hypertension, diabetes, dyslipidemia, overweight, obese and central obesity was 59.9% (1516/2532), 26.9% (682/2532), 68.5% (1735/2532), 40.9% (1038/2532), 14.8% (374/2532) and 49.5% (1254/2532) respectively, the age- and sex-standardized prevalence was 43.8%, 19.9%, 56.5%, 35.1%, 15.6%, 41.9%, respectively. Ten-year ICVD risk was higher than 10% in 14.1% (188/1336) residents aged between 35 to 59 years.</p><p><b>CONCLUSIONS</b>Risk factors and prevalence of cardiovascular disease as well as 10-year risk of ICVD are high in this rural population in Xianghe of Hebei province. Intensive prevention and therapy strategies are urgently needed to attenuate the ICVD risk factors and treat ICVD in rural area of China.</p>