A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes.
J Forensic Leg Med
; 105: 102707, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38908219
ABSTRACT
Sudden Cardiac Death (SCD) often shows negative anatomy results after a systemic autopsy and the gene mutations of potassium channel play a key role in the etiology of SCD. We established a feasible system to detect SCD-related mutations and investigated the mutations at KCNQ1 and KCNH2 genes in the Chinese population. We established a mutation detection system combined with multiplex PCR, SNaPshot technique, and capillary electrophoresis. We genotyped 101 putative mutations at KCNQ1 and KCNH2 genes in 60 SCD of negative anatomy and 50 controls using the established assay and compared Odd Ratio (OR). Four coding variants were identified in the KCNQ1 gene S546S, I145I, P448R, and G643S. The mutations of I145I and S546S did not differ significantly in the SCD compared with controls. 21 SCD individuals (35 %) and 1 control individual (2 %) showed a genotype of C/G at P448R (OR = 17.5, 95 % CI [2.40-127.82]). 24 SCD individuals (40 %) and 1 control individual (2 %) showed a genotype of C/G at G643S (OR = 20.0, 95 % CI [2.75-145.25]). We established a robust assay for rapid screening the putative SCD-related mutations in KCNQ1 and KCNH2 genes. The new assay in our study is easily amenable to the majority of laboratories without the need for new specialized equipment. Our method will meet the increasing requirement of mutation screening for SCD in regular DNA laboratories and will help screen mutations in those dead of SCD and their relatives.
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Base de datos:
MEDLINE
Asunto principal:
Muerte Súbita Cardíaca
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Canal de Potasio KCNQ1
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Canal de Potasio ERG1
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Genotipo
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Mutación
Idioma:
En
Revista:
J Forensic Leg Med
Asunto de la revista:
JURISPRUDENCIA
Año:
2024
Tipo del documento:
Article