<p>OBJECTIVETo analyze genetic polymorphism of D16S539 D7S820 D13S317 CSF1PO TPOX and TH01 in Chinese Korean.p><p>METHODSOne hundred unrelated individuals were analyzed by PCR amplification fragment length polymorphism analysis.p><p>RESULTSSix alleles and 18 genotypes of D16S539 locus, 7 alleles and 22 genotypes of D7S820 locus, 7 alleles and 23 genotypes of D13S317 locus, 6 alleles and 16 genotypes of CSF1PO locus, 6 alleles and 11 genotypes of TPOX locus, 5 alleles and 12 genotypes of TH01 locus.p><p>CONCLUSIONThe genotype distribution of all the 6 short tandem repeat(STR) in Chinese Korean met Hardy-Weinberg equilibrium, and have higher heterozygosities. The data obtained can be used in human identity and paternity testing, and in other genetic researches and population investigation.p>
Alleles ; China ; DNA ; genetics ; Gene Frequency ; Genotype ; Humans ; Korea ; ethnology ; Polymorphism, Genetic ; genetics ; Tandem Repeat Sequences ; genetics

Objective: Patients undergoing coronary artery bypass graft (CABG) surgery remain at high cardiovascular risk; however, few studies have evaluated lipid management and attainment of lipid targets in these patients. We investigated the proportion of CABG surgery patients who attained low-density lipoprotein cholesterol (LDL-C) and non-high-density lipoprotein cholesterol (HDL-C) targets. Methods: Data were retrospectively obtained from patients undergoing CABG surgery at an Australian tertiary hospital between February 2015 and August 2020. The most recent lipid profile was recorded (at least 3 weeks post-operatively). We studied patients with electronically available data to ensure accuracy. Target LDL-C was defined as <1.4 (54 mg/dL) and <1.8 mmol/L (70 mg/dL), and target non-HDL-C as <2.2 (85 mg/dL) and <2.6 mmol/L (100 mg/dL), as per the 2019 and 2016 European dyslipidaemia guidelines, respectively. Results: Follow-up lipid results were available for 484 patients (median post-operative follow-up, 483 days; interquartile range, 177.5–938.75 days). The mean age was 62.7±10.5 years and 387 (80.1%) were male. At discharge, 469 (96.9%) patients were prescribed statins, 425 (90.6%) high-intensity. Ezetimibe was prescribed for 62 (12.8%) patients and a proprotein convertase subtilisin-kexin type 9 inhibitor for 1. LDL-C levels <1.4 and <1.8 mmol/L were attained in 118 (24.4%) and 231 (47.7%) patients, respectively, and non-HDL-C levels <2.2 and <2.6 mmol/L in 140 (28.9%) and 237 (49.0%) patients, respectively. Conclusion The use of non-statin lipid-lowering therapies was limited, and many CABG surgery patients did not attain lipid targets despite high-intensity statins. Further studies are required to optimise lipid management in this very high-risk population.

The diagnosis of hypertrophic cardiomyopathy (HCM) is of great significance for the early risk classification of sudden cardiac death and the screening of family genetic diseases. This research proposed a HCM automatic detection method based on convolution neural network (CNN) model, using single-lead electrocardiogram (ECG) signal as the research object. Firstly, the R-wave peak locations of single-lead ECG signal were determined, followed by the ECG signal segmentation and resample in units of heart beats, then a CNN model was built to automatically extract the deep features in the ECG signal and perform automatic classification and HCM detection. The experimental data is derived from 108 ECG records extracted from three public databases provided by PhysioNet, the database established in this research consists of 14,459 heartbeats, and each heartbeat contains 128 sampling points. The results revealed that the optimized CNN model could effectively detect HCM, the accuracy, sensitivity and specificity were 95.98%, 98.03% and 95.79% respectively. In this research, the deep learning method was introduced for the analysis of single-lead ECG of HCM patients, which could not only overcome the technical limitations of conventional detection methods based on multi-lead ECG, but also has important application value for assisting doctor in fast and convenient large-scale HCM preliminary screening.
Algorithms ; Cardiomyopathy, Hypertrophic/diagnosis* ; Databases, Factual ; Electrocardiography ; Heart Rate ; Humans ; Neural Networks, Computer

<p>OBJECTIVETo investigate the relationship of associating mitochondrial DNA 12S rRNA gene mutations with non-syndromic and aminoglycoside-induced hearing loss happening to Chinese families.p><p>METHODSThe diagnosis was validated by hearing tests. Blood samples were collected from 20 family members (13 subjects from pedigree A and 7 from pedigree B) and 32 sporadic deafness cases. DNA was extracted from the leukocytes in blood samples. The gene fragments of mitochondrial DNA 12S rRNA, tRNA(Ser(UCN)) and GJB(2) were amplified by polymerase chain reaction (PCR). PCR products were analyzed by sequencing.p><p>RESULTSThe target gene fragments of all individuals were successfully amplified by PCR. The mitochondrial DNA 12S rRNA 827 A to G transition was detected from all maternal members including 12 patients with hearing loss, which was the homoplasmic mutation. Non-maternal members in two pedigrees did not carry this mutation. However, the tRNA(Ser(UCN)) A7445G, 12SrRNA A1555G and GJB2 gene mutations were not found from both the family members of two pedigrees and sporadic patients. One sporadic individual (1/32) who was diagnosed as aminoglycoside-induced hearing impairment carried A827G mutation too.p><p>CONCLUSIONIt is confirmed that the mitochondrial DNA 12S rRNA gene is a hot spot for mutations associated with non-syndromic inherited hearing loss. The 12S rRNA nt827 A to G mutation may play a pivotal role in the pathogenesis of hearing impairment in two Chinese pedigrees.p>
Adolescent ; Base Sequence ; Child ; Child, Preschool ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics

<p>OBJECTIVETo investigate the genotypes of mitochondrial DNA mutations of a large nonsyndromic inherited hearing impairment pedigree.p><p>METHODSThe diagnosis was validated by hearing test. Blood samples from the branch pedigree (33 members) and 6 sporadic patients were obtained. DNA was extracted from the leukocytes. The mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR). The 1555G, 3243G and 7445G mutations were detected by BsmA I, Apa I and Xba I restriction endonuclease digestion respectively. Some PCR products were analyzed by sequencing.p><p>RESULTSRestriction endonuclease digestion identified that 17 patients from the pedigree carried 1555G mutation. All pedigree members, including patients and sporadic patients, did not have 3243G and 7445G mutation. In 6 patients of the pedigree DNA sequence analysis revealed double mutations, an A>G transition at position 1555 and a C insertion at position 961, whereas the unaffected relatives of the pedigree and sporadic patients did not have such mutations. None of them carried 3243G and 7445G mutation.p><p>CONCLUSIONDouble mutations of A1555G and 961 insC in mitochondrial DNA 12S rRNA gene region may play a pivotal role in the pathogenesis of hearing loss in the large nonsyndromic inherited hearing impairment pedigree.p>
Base Sequence ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Female ; Genetic Predisposition to Disease ; Hearing Loss ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Mutagenesis, Insertional ; Pedigree ; Point Mutation

<p>OBJECTIVETo investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2).p><p>METHODSGenomic DNA was obtained from affected and unaffected members of the family. With an ABI PRSIM Linkage Mapping Set-MD10 kit, selected markers flanking the PHOX2A locus were used for linkage analysis. Exons of PHOX2 gene were amplified and sequenced. A total of 100 normal subjects were recruited as controls.p><p>RESULTSGenetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene. DNA sequencing has identified a heterozygous mutation in the exon 2 of the gene (227T to G, N76K). The same mutation was not found in the unaffected and 100 normal controls.p><p>CONCLUSIONA mutation of the PHOX2A gene 227T to G is responsible for the onset of congenital fibrosis of extraocular muscles type 2 in this Chinese family.p>
Base Sequence ; Case-Control Studies ; China ; Female ; Fibrosis ; genetics ; Homeodomain Proteins ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Ocular Motility Disorders ; genetics ; Oculomotor Muscles ; abnormalities ; Pedigree

Humans ; Keratins ; Immunohistochemistry ; Colorectal Neoplasms/pathology* ; Staining and Labeling ; Neoplasm Staging

Human ; Metals, Heavy ; Tobacco ; Tobacco Products

<p>OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.p><p>METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.p><p>RESULTSThe C1494T mutation did not appear in all cases except for the positive control.p><p>CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.p>
Adolescent ; Aminoglycosides ; adverse effects ; Anti-Bacterial Agents ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Child ; China ; DNA, Mitochondrial ; genetics ; Female ; Hearing Loss ; chemically induced ; ethnology ; genetics ; Humans ; Male ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Ribosomal ; genetics

<p>OBJECTIVETo explore the relationship between genetic polymorphisms of 3 single nucleotide polymorphisms (SNPs) in the elastin microfibril interfacer 1 (EMILIN1) gene and essential hypertension.p><p>METHODSA case-control study was conducted in which 201 hypertensive patients and 202 healthy controls in Mongolian population were enrolled, and the genotypes of rs3754734, rs2011616 and rs2304682 loci were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing techniques.p><p>RESULTSThere were significant differences in the frequencies of alleles and genotypes for the rs2304682 between the hypertensives and normotensives in the population (P<0.05). The frequency of the G-G haplotype established by rs3754734 and rs2304682 was significantly higher in the hypertensive patients (P<0.05). The frequencies of alleles and genotypes for the rs2304682 also had significant differences between the group with high diastolic blood pressure and normal diasto lic blood pressure (P<0.05).There were no significant differences in the frequencies of alleles and genotypes for the 3 SNPs between the group with high systolic blood pressure and normal systolic blood pressure (P>0.05).p><p>CONCLUSIONThe rs2304682 locus in the EMILIN1 gene, as well as the haplotypes G-G constructed using rs3754734 and rs2304682, may associate with the susceptibility of essential hypertension in the Mongolian population. Also, rs2304682 may associate with the level of the diastolic blood pressure.p>
Blood Pressure ; genetics ; Case-Control Studies ; Genetic Predisposition to Disease ; Humans ; Hypertension ; genetics ; Membrane Glycoproteins ; genetics ; Middle Aged ; Mongolia ; Polymorphism, Single Nucleotide