Nucleotide Substitution In Exon Research Articles

Recognition of the HLA‐B*39:36 allele in a Taiwanese bone marrow donor

Four nucleotide substitutions in exon 3 of HLA-B*39:01:01:01 result in a novel allele, HLA-B*39:36.

A new HLA-B allele, HLA-B*07:422.

The novel allele HLA-B*07:422 differs from HLA-B*07:02:01:01 by one nucleotide substitution in exon 4.

Identification of the novel HLA-DPA1 allele, DPA1*02:53 by next-generation sequencing.

The novel HLA-DPA1*02:53 allele differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in exon 3.

X-linked SCID with a rare mutation

BackgroundSevere combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different clinical presentations. SCID may be inherited as an autosomal recessive or an X-linked genetic trait.Case presentationA 6-year-old male presented with a history of food allergy, productive coughs, and recurrent purulent rhinitis, poor weight gain and hypothyroidism. The total count of CD4+ T lymphocytes, along with their naïve and central memory subpopulations, as well as central memory CD8+ T cells were decreased in flow cytometry. A nucleotide substitution in exon one of interleukin 2 receptor gamma chain (IL-2RG) gene (c.115 G>A, p.D39N, ChrX: 70,331,275) was reported, based on which the diagnosis of X-liked SCID was confirmed. Antiviral and antibiotic prophylaxis, along with monthly IVIG (intravenous immunoglobulin) was started and the patient was subsequently referred for hematopoietic stem cell transplantation.ConclusionPIDs should be considered as the differential diagnosis in any patient with unexplained and bizarre symptoms associated with recurrent infections, allergic and autoimmune manifestations. Clinicians should also bear X-SCID in mind in case of approach to any patient with poor weight gain, unusual allergic or endocrine manifestations, even in the case of a normal or increased level of serum immunoglobulins or T and B cells numbers.

Identification of the novel HLA-DRB1*03:01:32 in an Italian patient.

The novel HLA-DRB1*03:01:32 allele differs from HLA-DRB1*03:01:01:01 by one nucleotide substitution in exon 4.

A new HLA-B allele, HLA-B*35:481.

The novel allele HLA-B*35:481 differs from HLA-B*35:05:01 by two nucleotide substitution in exon 3.

The novel HLA-DQB1*06:03:27 allele characterised by sequence-based typing in a European bone marrow donor.

A single nucleotide substitution in exon 3 of HLA-DQB1*06:03:01 results in a new allele, HLA-DQB1*06:03:27.

The novel allele, HLA‐A*32:148, identified by next generation sequencing in a Saudi individual

A single nucleotide substitution in exon 4 of HLA-A*32:01:01:01 results in novel HLA-A*32:148 allele.

Identification of the novel HLA‐A*68:100 allele by PCR‐SBT in a Chinese bone marrow donor

The novel HLA-A*68:100 allele differs from HLA-A*68:01:02:01 by one nucleotide substitution in exon 3 at position 371.

The novel HLA-DPB1*571:01 allele characterized by SMRT DNA sequencing in an African Caribbean individual.

A single nucleotide substitution in exon 3 of HLA-DPB1*105:01 results in a new allele, HLA-DPB1*571:01.

Identification of the novel HLA-B*13:109 allele by polymerase chain reaction sequence-based typing.

The new allele HLA-B*13:109 differs from HLA-B*13:01:01:01 by one nucleotide substitution in exon 4.

A new HLA-DQA1 allele, HLA-DQA1*01:26.

The novel allele HLA-DQA1*01:26 differs from HLA-DQA1*01:01:01:01 by one nucleotide substitution in exon 2.

A novel HLA-DQA1 allele, DQA1*01:05:03, identified in a patient with suspected celiac disease.

A novel HLA-DQA1 allele, officially named DQA1*01:05:03 by the WHO Nomenclature Committee, was identified in a Norwegian patient with suspected celiac disease. The allele was sequenced by next-generation sequencing and is identical to DQA1*01:05:01:01 with the exception of one synonymous nucleotide substitution in exon two.

Новые полиморфизмы в гене BTC1 сахарной свеклы

The flowering time control gene of various sugar beet plants has been studied. The BTC1 gene is a regulator for the suppressor (flowering time 1) and inducer (flowering time 2) genes of this physiological process. The F9/R9 primer pair was used for polymerase chain reaction; these primers are specific to the BTC1 gene region containing exon 9, as well as intron and exon 10. For the first time, nucleotide substitutions in exon 10 of BTC1 gene were identified in bolting sensitive samples (HF1 and BF1), which led to a change in the amino acid composition of the coded polypeptide chain. Based on the results of bioinformatic analysis, it can be assumed that certain nucleotide polymorphisms in the BTC1 gene may determine with a high probability the predisposition of sugar beet genotypes to early flowering. The use of the Geneious Prime tool for the analysis of the BTC1 gene sequences may allow the culling of genotypes prone to early flowering at early stages of selection. sugar beet, flowering gene, BTC1, genetic polymorphism, PCR, molecular genetic markers, selection

Investigation of the Correlation between Graves' Ophthalmopathy and CTLA4 Gene Polymorphism.

Graves’ disease (GD) is an autoimmune inflammatory disease, and Graves’ ophthalmopathy (GO) occurs in 25–50% of patients with GD. Several susceptible genes were identified to be associated with GO in some genetic analysis studies, including the immune regulatory gene CTLA4. We aimed to find out the correlation of CTLA4 gene polymorphism and GO. A total of 42 participants were enrolled in this study, consisting of 22 patients with GO and 20 healthy controls. Chi-square or Fisher’s exact test were used to appraise the association between Graves’ ophthalmopathy and CTLA4 single nucleotide polymorphisms (SNPs). All regions of CTLA4 including promoter, exon and 3’UTR were investigated. There was no nucleotide substitution in exon 2 and exon 3 of CTLA4 region, and the allele frequencies of CTLA4 polymorphisms had no significant difference between patients with GO and controls. However, the genotype frequency of “TT” genotype in rs733618 significantly differed between patients with GO and healthy controls (OR = 0.421, 95%CI: 0.290–0.611, p = 0.043), and the “CC” and “CT” genotype in rs16840252 were nearly significantly differed in genotype frequency (p = 0.052). Haplotype analysis showed that CTLA4 Crs733618Crs16840252 might increase the risk of GO (OR = 2.375, 95%CI: 1.636–3.448, p = 0.043). In conclusion, CTLA4 Crs733618Crs16840252 was found to be a potential marker for GO, and these haplotypes would be ethnicity-specific. Clinical application of CTLA4 Crs733618Crs16840252 in predicting GO in GD patients may be beneficial.

The HLA-DRB1*14:208 allele detected in a Taiwanese individual.

Nucleotide substitutions in exons 2 and 3 of HLA-DRB1*14:07:01 result in a new allele, HLA-DRB1*14:208.

Identification of the novel HLA-C*12:220 allele in a Chinese individual.

The new allele HLA-C*12:220 differs from HLA-C*12:03:01:01 by one nucleotide substitution in exon 7.

Identification of a novel HLA-DPB1, HLA-DPB1*687:01, in an Italian renal transplant candidate.

Two adjacent nucleotide substitutions in exon 2 characterize the novel class II HLA-DPB1*687:01 allele.

Identification of the novel HLA-A*01:289 allele in an Italian patient.

The new allele HLA-A*01:289 differs from HLA-A*01:95 by one nucleotide substitution in exon 2.

A new HLA‐C*04 variant, HLA‐C*04:01:106, discovered in an Italian hematopoietic stem cell donor

HLA-C*04:01:106 differs from C*04:01:01:01 by a silent nucleotide substitution in exon 4.