RESUMO
A nucleotide mutation in codon 171 of HLA-A*11:01:01:01 results in a novel allele HLA-A*11:127N.
Assuntos
Alelos , Códon , Éxons , Antígeno HLA-A11 , Teste de Histocompatibilidade , Humanos , Taiwan , Antígeno HLA-A11/genética , Éxons/genética , Teste de Histocompatibilidade/métodos , Sequência de Bases , Análise de Sequência de DNA/métodos , Povo Asiático/genéticaRESUMO
A nucleotide deletion in the residue 371 of HLA-A*11:01:01:01 results in a novel allele HLA-A*11:466N.
Assuntos
Éxons , Antígeno HLA-A11 , Teste de Histocompatibilidade , Humanos , Alelos , Sequência de Bases , Códon , Antígeno HLA-A11/genética , Alinhamento de Sequência , Análise de Sequência de DNA , Deleção de Sequência , TaiwanRESUMO
The novel HLA-DPB1*1449:01N allele differs from HLA-DPB1*16:01:01:01 by a nucleotide at codon 92 in exon 2.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Éxons/genética , Cadeias beta de HLA-DP/genéticaRESUMO
HLA-C*05:292N differs from HLA-C*05:01:01:08 by a frameshift mutation, a deletion at gDNA position 758.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
HLA-A*11:452N differs from A*11:01:01:01 by a single nucleotide exchange in exon 1.
Assuntos
Antígenos HLA-A , Humanos , Alelos , China , Sequenciamento de Nucleotídeos em Larga Escala , Antígenos HLA-A/genética , População do Leste Asiático/genéticaRESUMO
HLA-A*26:206:02N differs from A*26:01:01:01 by a single nucleotide exchange in exon 3.
Assuntos
Genômica , Hepatite B , Humanos , Alelos , Éxons/genética , Antígenos HLA-A/genética , Hepatite B/genética , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Locally produced food is becoming popular among Swedish consumers. One product that has increased in popularity is artisan-manufactured goat cheese, and although the dairy goat industry in Sweden is small-scale, production is gradually increasing. In goats, the CSN1S1 gene regulates expression of the protein αS1-casein (αS1-CN), which has been found to be important for cheese yield. Over the years, breeding animals have been imported to Sweden from Norway. Historically, a high frequency of the Norwegian goat population carried a polymorphism at the CSN1S1 gene. This polymorphism, called the Norwegian null allele (D), leads to zero or significantly reduced expression of αS1-CN. Using milk samples from 75 goats, this study investigated associations between expression of αS1-CN and genotype at the CSN1S1 gene on milk quality traits from Swedish Landrace goats. Milk samples were grouped according to relative level of αS1-CN (low: 0-6.9% of total protein; medium-high: 7-25% of total protein) and genotype (DD, DG, DA/AG/AA). While the D allele leads to extremely low expression of αS1-CN, the G allele is low expressing and the A allele is highly expressing for this protein. Principal component analysis was used to explore the total variation in milk quality traits. To evaluate the effect of different allele groups on milk quality attributes, 1-way ANOVA and Tukey pairwise comparison tests were used. The majority (72%) of all goat milk samples investigated showed relative αS1-CN content of 0% to 6.82% of total protein. The frequency of individuals homozygous for the Norwegian null allele (DD) was 59% in the population of sampled goats, and only 15% carried at least one A allele. A low relative concentration of αS1-CN was associated with lower total protein, higher pH, and higher relative concentration of ß-casein and levels of free fatty acids. Milk from goats homozygous for the null allele (DD) showed a similar pattern as milk with low relative concentration of αS1-CN, but total protein was only numerically lower, and somatic cell count and αS2-CN were higher than for the other genotypes. The associations between levels of αS1-CN and the investigated genotype at the CSN1S1 gene indicate a need for a national breeding program for Swedish dairy goats.
Assuntos
Caseínas , Leite , Animais , Leite/química , Caseínas/análise , Suécia , Genótipo , Cabras/genética , Alérgenos/metabolismo , Proteínas do Leite/análiseRESUMO
In the practice of parentage testing, short tandem repeat (STR) genetic inconsistencies occasionally occur and are usually treated as genetic mutations. However, they arise for various reasons. To elucidate the reasons for their occurrence, this study investigates a typical trio. For the D6S1043 locus, the genotype of the biological mother comprised the heterozygous alleles "7,20"; that of the child, allele 20; and that of the alleged father, a heterozygous allele "11,13," revealing a 7-step mutation. Different kits were first used to verify the data. The locus map, primers, and core sequences were then analyzed. Ultimately, the STR and single nucleotide polymorphisms of 6q were tested to determine the microdeletion range. The results revealed that this was indeed a true trio, and the underlying cause of the genetic inconsistency at this locus was a microdeletion of approximately 0.74-1.78 Mb in 6q15. Overall, genetic inconsistencies detected during practical work, and particularly rare multi-step mutations, cannot be directly identified as STR mutations. Different tools should be used to examine the causes of genetic inconsistencies from various perspectives and improve the effectiveness of genetic evidence.
Assuntos
Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Criança , Humanos , Mutação , Genótipo , Primers do DNA , Alelos , PaternidadeRESUMO
HLA-DRB1*07:143N and HLA-DRB1*07:144 differ from DRB1*07:01:01:01 by single mismatches in exons 3 and 2 respectively.
Assuntos
Cadeias HLA-DRB1 , Humanos , Cadeias HLA-DRB1/genética , Sequência de Bases , Alinhamento de Sequência , Alelos , Éxons/genéticaRESUMO
The novel HLA-C*05:278N allele has a premature stop codon in exon 4.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Éxons/genética , Códon sem Sentido , Análise de Sequência de DNARESUMO
The novel HLA-DPB1*1455:01N allele differs from DPB1*05:01:01:01 by one amino acid deletion in exon 3.
Assuntos
Doadores de Tecidos , Humanos , Sequência de Bases , Alelos , Cadeias beta de HLA-DP/genéticaRESUMO
PRUNE1 is a member of the aspartic acid-histidine-histidine (DHH) protein superfamily, which could display an exopolyphosphatase activity and interact with multiple cellular proteins involved in the cytoskeletal rearrangement. It is widely expressed during embryonic development and is essential for embryogenesis. PRUNE1 could also be critical for postnatal development of the nervous system as it was found to be mutated in patients with microcephaly, brain malformations, and neurodegeneration. To determine the cellular function of PRUNE1 during development and in disease, we have generated conditional mouse alleles of the Prune1 in which loxP sites flank exon 6. Crossing these alleles with a ubiquitous Cre transgenic line resulted in a complete loss of PRUNE1 expression and embryonic defects identical to those previously described for Prune1 null embryos. In addition, breeding these alleles with a Purkinje cell-specific Cre line (Pcp2-Cre) resulted in the loss of Purkinje cells similar to that observed in patients carrying a mutation with loss of PRUNE1 function. Therefore, the Prune1 conditional mouse alleles generated in this study provide important genetic tools not only for dissecting the spatial and temporal roles of PRUNE1 during development but also for understanding the pathogenic role of PRUNE1 dysfunction in neurodegenerative or neurodevelopmental disease. In addition, from this work, we have described an approach that allows one to efficiently generate conditional mouse alleles based on mouse zygote electroporation.
Assuntos
Histidina , Melhoramento Vegetal , Camundongos , Animais , Alelos , Camundongos Knockout , MutaçãoRESUMO
The failure to identify HLA null alleles in bone marrow transplantation could be life-threatening because this could result in an HLA mismatch with the ability to trigger the graft-vs-host disease (GVHD) and to reduce patient's survival. In this report we describe the identification and characterization of the novel HLA-DPA1*02:66:02N allele with a non-sense codon in exon 2. This new allele was discovered in two unrelated bone marrow donors during routine HLA-typing using next-generation sequencing (NGS). DPA1*02:66:02N is homologous to DPA1*02:01:01:03 with a single nucleotide difference in exon 2, codon 50, where the replacement of C located at genomic position 3825 by T, causes the formation of a premature stop codon (TGA), resulting in a null allele. This description illustrates the benefits of HLA typing by NGS since it permits to reduce ambiguities, identify new alleles, analyze multiple HLA loci and improve transplantation outcome.
Assuntos
Códon sem Sentido , Cadeias alfa de HLA-DP , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Éxons/genética , Códon , Teste de Histocompatibilidade/métodosRESUMO
Three new HLA alleles characterized by next-generation sequencing, HLA-A*68:298, HLA-C*07:1054N and HLA-DRB1*15:216.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Cadeias HLA-DRB1/genética , Antígenos HLA-C/genética , Alelos , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
HLA-B*35:574N contains a single nucleotide substitution at nucleotide position 2 (ATG to ACG).
Assuntos
Antígenos HLA-B , Nucleotídeos , Humanos , Códon de Iniciação , Alelos , Antígenos HLA-B/genética , Mutação , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
The novel HLA-C*03:618N allele has one change in exon 1 leading to a premature stop codon.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Éxons/genética , Códon sem Sentido , Análise de Sequência de DNARESUMO
Two new HLA alleles were identified during routine next generation sequencing.
Assuntos
Antígenos HLA-A , Antígenos HLA-C , Humanos , AlelosRESUMO
The novel HLA-A*01:420N allele has two changes in exon 4 leading to premature stop codon.
Assuntos
Códon sem Sentido , Antígenos HLA-A , Humanos , Sequência de Bases , Alelos , Éxons/genética , Antígenos HLA-A/genética , Análise de Sequência de DNARESUMO
HLA-C*08:236N differs from C*08:01:01 by a single nucleotide exchange in exon 5 at position 1991.