HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population
| Autor: | Kun Yin, Bing‐jie Hu, Jianding Cheng, Qiuping Wu, Qianhao Zhao |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Forensic Genetics Male China Heterozygote Forensic pathology Han chinese Potassium Channels Genotype Sudden Unexplained Nocturnal Death Syndrome Mutation Missense Muscle Proteins Autopsy Single-nucleotide polymorphism Polymerase Chain Reaction Pathology and Forensic Medicine Death Sudden Gene Frequency Ethnicity Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels Genetics Humans Medicine Missense mutation business.industry Genetic Variation Sequence Analysis DNA Sudden infant death syndrome Hcn4 gene Case-Control Studies Immunology business |
| Zdroj: | Journal of Forensic Sciences. 64:1112-1118 |
| ISSN: | 1556-4029 0022-1198 |
| DOI: | 10.1111/1556-4029.13958 |
| Popis: | Sudden unexplained nocturnal death syndrome (SUNDS) is widely considered to be related to hereditary fatal arrhythmias. Hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4) channels are widely distributed in sinus myocytes and play a profound role in generating pacemaker electro-activity in cardiomyocytes. In the present study, the potential correlation between HCN4 gene variations and the occurrence of SUNDS was investigated. Genomic DNA was extracted from blood samples of both 119 unrelated SUNDS patients and 184 healthy individuals and screened for candidate HCN4 gene variants. One missense heterozygous variant c.1578C>T (Ala195Val) and four synonymous heterozygous variants c.1552C>T, c.2833C>T, c.3823C>T, and c.4189C>A were discovered in the SUNDS cases. The missense variant c.1578C>T (Ala195Val) was absent in 163 recruited controls and 105 persons of the Southern Han Chinese population, had in-silico prediction indications as damaging, and was reported prevalent in sudden infant death, and is thus likely to be involved in SUNDS. |
| Databáze: | OpenAIRE |
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