Substitution In Exon Research Articles

The novel HLA-C*07:02:147 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-C*07:02:147 differs from HLA-C*07:02:01:01 by one synonymous nucleotide substitution in exon 2.

The novel HLA-DPB1*1467:01 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-DPB1*1467:01 differs from HLA-DPB1*09:01:01:01 by one non-synonymous nucleotide substitution in exon 2.

Identification of the novel HLA-DPA1*02:02:15 allele by next-generation sequencing.

The novel HLA-DPA1*02:02:15 allele differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution in exon 1.

The novel HLA-A*30:01:23 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-A*30:01:23 differs from HLA-A*30:01:01:01 by one synonymous nucleotide substitution in exon 2.

The novel HLA-DQA1*05:05:17:03 allele, identified in a potential organ donor.

HLA-DQA1*05:05:17:03 differs from HLA-DQA1*05:05:01:02 by a single base substitution in exon 1 and HLA-DQA1*05:05:17:01 within introns 1 and 2.

The novel HLA-B*44:48:02 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-B*44:48:02 differs from HLA-B*44:48:01 by one synonymous nucleotide substitution in exon 3.

The novel HLA-A*36:14 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-A*36:14 differs from HLA-A*36:01:01:01 by one non-synonymous nucleotide substitution in exon 4.

The novel HLA-DRB1*03:210 allele characterised by two different sequencing-based typing techniques.

The novel allele HLA-DRB1*03:210 differs from HLA-DRB1*03:01:01:01 by one non-synonymous nucleotide substitution in exon 3.

Genomic full-length sequence of the novel HLA-B*56:94 allele.

HLA-B*56:94 differs from HLA-B*56:05:01 by two non-synonymous nucleotide substitutions in exon 1 and synonymous nucleotide substitutions in exon 1 and exon 2.

Characterization of the novel HLA-DPB1*1584:01 allele, identified by next-generation sequencing.

HLA-DPB1*1584:01 differs from HLA-DPB1*104:01:01:03 by one nucleotide substitution in exon 2.

The novel HLA-C*06:372 allele, identified in a stem cell donor of an old order mennonite ethnicity.

HLA-C*06:372 differs from HLA-C*06:02:01:01 by a single substitution in exon 4.

Characterization of the novel HLA-DPB1*1516:01 allele by sequencing-based typing.

HLA-DPB1*1516:01 differs from HLA-DPB1*1229:01 by seven nucleotide substitutions in exon 3.

The novel HLA-B*35:592 allele, confirmed by Sanger dideoxy nucleotide sequencing in a Russian individual.

HLA-B*35:592 differs from HLA-B*35:03:01:01 by one nucleotide substitution in exon 4.

The novel HLA-DRB1*08:127 allele, identified in a deceased organ donor of Scandinavian descent.

HLA-DRB1*08:127 differs from HLA-DRB1*08:01:01:01 by a single substitution in exon 4.

The novel HLA-B*39:199 allele identified in a candidate bone marrow donor.

HLA-B*39:199 differs from HLA-B*39:10:01 by a G → A substitution in exon 5 in codon 282.

A single nucleotide substitution in exon 4 produced the novel allele, HLA-C*07:1093.

Characterization of the novel HLA-C*07:1093 allele in a Russian female bone marrow donor.

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

BackgroundDilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. Whole-exome sequencing (WES) is a powerful tool to identify variants underlying genetic cardiomyopathies. Via WES, we sought to identify DCM causes in a family with 2 affected patients.MethodsWES was performed on the affected members of an Iranian family to identify the genetic etiology of DCM. The candidate variant was segregated via polymerase chain reaction and Sanger sequencing. Computational modeling and protein-protein docking were performed to survey the impact of the variant on the structure and function of the protein.ResultsA novel single-nucleotide substitution (G > A) in exon 9 of MED12, c.1249G > A: p.Val417Ile, NM_005120.3, was identified. The c.1249G > A variant was validated in the family. Bioinformatic analysis and computational modeling confirmed that c.1249G > A was the pathogenic variant responsible for the DCM phenotype.ConclusionWe detected a novel DCM-causing variant in MED12 using WES. The variant in MED12 may decrease binding to cyclin-dependent kinase 8 (CDK8), affect its activation, and cause alterations in calcium-handling gene expression in the heart, leading to DCM.

Identification of the novel HLA-C*12:391 allele by next-generation sequencing.

The HLA-C*12:391 allele has three nucleotide substitutions in exon 3 compared to HLA-C*12:44 allele.

Identification of the novel HLA-A*03:01:123 allele in a Russian individual.

Two nucleotide substitutions in exon 4 of HLA-A*03:01:01:01 results in the novel HLA-A*03:01:123 allele.

Identification of the novel HLA-DQA1*01:138 allele by next-generation sequencing.

HLA-DQA1*01:138 is identical to HLA-DQA1*01:03 except for a single nucleotide substitution in exon 3.