Background: Hearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss, hearing-related gene detection has not been widely adopted in China.
Objective: Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.
Methods: A reverse dot blot assay combined with a flow-through hybridization technique was developed for the simultaneous detection of 13 hotspot mutations of 4 hearing loss-related genes including and the mitochondrial gene . This method involved PCR amplification systems and a hybridization platform.
Results: The technique can detect 13 hotspot mutations of 4 hearing loss-related genes. And a total of 213 blood samples were used to evaluate the availability of this method.
Discussion: Our reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify hotspot mutations of 4 hearing loss-related genes in a Chinese population.
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http://dx.doi.org/10.2478/abm-2024-0003 | DOI Listing |
Small
January 2025
Chair for Emerging Electronic Technologies, TUD Dresden University of Technology, Nöthnitzer Straße 61, 01187, Dresden, Germany.
The stability of perovskite quantum dot solar cells is one of the key challenges of this technology. This study reveals the unique degradation behavior of cesium lead triiodide (CsPbI) quantum dot solar cells. For the first time, it is shown that the oxygen-induced degradation and performance loss of CsPbI quantum dot photovoltaic devices can be reversed by exposing the degraded samples to humidity, allowing the performance to recover and even surpass the initial performance.
View Article and Find Full Text PDFHemoglobin
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong 529500, China.
Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.
Front Public Health
January 2025
Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Understanding the HPV genotype distribution in invasive cervical cancer (ICC) is essential for vaccine optimization. This study presents a comprehensive analysis of HPV genotypes in ICC tissues from patients in western China, with the aim of informing regional vaccine policy and prevention strategies.
Methods: DNA was extracted from 1,908 paraffin-embedded ICC samples, and 23 HPV genotypes were detected via PCR and reverse dot hybridization gene chip assays.
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Central Laboratory, Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
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