PMC:3480677 / 6305-8909 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3480677","sourcedb":"PMC","sourceid":"3480677","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3480677","text":"Results\nIn the present study, we sequenced all translated exons and exon-intron boundaries of the SCN5A gene from 113 Korean AVB patients. As a result, we identified 7 genetic variations (of these, 5 were known variations and 2 were novel variations), consisting of 3 synonymous (G87A-A29A, G3048A-T1016T, and T5457C-D1819D), 3 non-synonymous (C48G-F16L, A1673G-H558R, and G3578A-R1193Q), and 1 splicing donor site of the intron 9-exon 10 boundary (intervening sequence [IVS] 9-3C \u003e A) (Table 2). The examples of the sequencing result are shown in Fig. 3. Among the 7 genetic variations, 2 single nucleotide polymorphisms (SNPs) have been reported by American and Japanese researchers: non-synonymous SNP in exon 12 (rs1805124, A1673G-H558R) and synonymous SNP in exon 28 (rs1805126, C5457T-D1819D). A1673G-H558R was identified in 18% of the American populations (n = 71) and 8% of the Japanese populations (n = 100) [8, 9], and C5457T-D1819D was observed in 12.3% of the American populations (n = 130) and 46% of the Japanese populations (n = 100) [9, 10]. We also discovered a synonymous SNP (rs6599230: G87A-A29A, in exon 2) and non-synonymous SNP (rs41261344, G3578A-R1193Q, in exon 20) that are very common polymorphisms in the Han Chinese population. In addition, we identified 2 novel variations that have not been previously reported. One of these variations was heterozygous synonymous (G3048A-T1016T), and the other was heterozygous non-synonymous (C48G-F16L). The genotype and allele frequencies of the identified genetic variations are summarized in Table 2. There were significant differences in the allele frequencies of A1673G-H558R and G3048A (T1016T) between the two groups (p \u003c 0.05). There were no statistically significant differences in allele frequencies of the other genetic variations between the two groups (all p \u003e 0.05).\nHowever, G298S [11], G514C [12], P1008S [13], G1406R [14], and D1595N [11], identified in other ethnic populations, were not detected, and A3075T-E1025D and T4847A-F1616Y, discovered in 105 Korean sick sinus syndrome patients in our previous study, were also not detected in this study.\nNext, to compare with normal controls, we analyzed normal samples by the same methods whether the same variations existed in their genes. Just as in the patient group, 4 SNPs (rs6599230, G87A-A29A; rs41312434, IVS9-3C \u003e A; rs1805124, A1673G-H558R; rs1805126, C5457T-D1819D) were detected in the normal control group, but 1 non-synonymous SNP (rs41261344, G3578A-R1193Q) and 2 novel variations (C48G-F16L and G3048A-T1016T) were not detected in the normal control group.","divisions":[{"label":"Title","span":{"begin":0,"end":7}}],"tracks":[{"project":"2_test","denotations":[{"id":"23105938-11997281-44845439","span":{"begin":918,"end":919},"obj":"11997281"},{"id":"23105938-10807545-44845440","span":{"begin":921,"end":922},"obj":"10807545"},{"id":"23105938-10807545-44845441","span":{"begin":1050,"end":1051},"obj":"10807545"},{"id":"23105938-10508990-44845442","span":{"begin":1053,"end":1055},"obj":"10508990"},{"id":"23105938-11804990-44845443","span":{"begin":1864,"end":1866},"obj":"11804990"},{"id":"23105938-11234013-44845444","span":{"begin":1876,"end":1878},"obj":"11234013"},{"id":"23105938-20025708-44845445","span":{"begin":1889,"end":1891},"obj":"20025708"},{"id":"23105938-11748104-44845446","span":{"begin":1902,"end":1904},"obj":"11748104"},{"id":"23105938-11804990-44845447","span":{"begin":1919,"end":1921},"obj":"11804990"}],"attributes":[{"subj":"23105938-11997281-44845439","pred":"source","obj":"2_test"},{"subj":"23105938-10807545-44845440","pred":"source","obj":"2_test"},{"subj":"23105938-10807545-44845441","pred":"source","obj":"2_test"},{"subj":"23105938-10508990-44845442","pred":"source","obj":"2_test"},{"subj":"23105938-11804990-44845443","pred":"source","obj":"2_test"},{"subj":"23105938-11234013-44845444","pred":"source","obj":"2_test"},{"subj":"23105938-20025708-44845445","pred":"source","obj":"2_test"},{"subj":"23105938-11748104-44845446","pred":"source","obj":"2_test"},{"subj":"23105938-11804990-44845447","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#b7ec93","default":true}]}]}}