RESUMO
Despite sharing a similar genetic abnormality, patients with core binding factor acute myeloid leukemia (CBF-AML), which is characterized by the presence of t(8;21) or inv(16)/t(16;16), show heterogeneous survival. Other molecular or cytogenetic factors are supposed to have an impact on the prognosis. We enrolled 24 CBF-AML patients to determine the impact of cytogenetic abnormality, and c-KIT, FLT3, NPM1, and CEBPA mutations on the prognosis. Only three patients had the c-KIT mutation (3/24, 12.5%) and one had the FLT3 mutation. However, over half of the patients (14/24) harbored additional cytogenetic changes, including ten with loss of sexual chromosomes (LOS) [all in the t(8;21) group], and six had additional abnormalities (two cases had both LOS and additional abnormalities). From this small-number study, no association was found between c-KIT mutation and survival and relapse rate. However, additional chromosome abnormalities had a significant association with relapse of the disease (P = 0.027). Stem cell transplant had a trend of benefitting patients after relapse (P = 0.065). This implies that chromosome abnormalities occur in CBF-AML and might take part in the heterogeneous nature of CBF-AML.
Assuntos
Aberrações Cromossômicas , Fatores de Ligação ao Core/genética , Leucemia Mieloide Aguda/genética , Adulto , Idoso , Feminino , Humanos , Leucemia Mieloide Aguda/mortalidade , Masculino , Pessoa de Meia-Idade , Mutação , Nucleofosmina , Prognóstico , Proteínas Proto-Oncogênicas c-kit/genética , Adulto JovemRESUMO
Growth and meat quality traits play important roles in the evaluation of cattle productivity and are influenced by genetic and environmental factors. CRTC2 is a recently discovered gene related to obesity that may influence fat deposition. The aim of the current study was to detect polymorphisms of bovine CRTC2 and explore their relationships to growth and meat quality in Qinchuan cattle. Three single nucleotide polymorphisms (SNPs); g.3001 C>T; g.3034 G>A; and g.3467 T>C, were identified from sequencing results of 422 Qinchuan cattle. The genotypic distributions of both g.3034 G>A and g.3467 T>C mutations were in agreement with Hardy-Weinberg equilibrium, (P < 0.05), while the T3001C mutation was not (P > 0.05), based on χ(2) test analysis. The SNPs g.3001 C>T and g.3034 G>A are missense mutations (Ser/Phe and Ser/Thr respectively). Additionally, SNPs g.3034 G>A and g.3467 T>C showed a medium polymorphism level (0.25 < PIC< 0.50), whereas g.3001 C>T showed a low polymorphism level (PIC < 0.25). These three SNPs were significantly associated with several growth and meat quality traits in the Qinchuan cattle population (P < 0.05 or P < 0.01). Collectively, these results demonstrate that CRTC2 is involved in the regulation of cattle growth and meat quality, and suggest that CRTC2 is a potential candidate gene for marker-assisted selection in future breeding development programs for Qinchuan cattle.
Assuntos
Bovinos/genética , Carne/normas , Polimorfismo de Nucleotídeo Único/genética , Fatores de Transcrição/genética , Alelos , Animais , Frequência do Gene/genética , Estudos de Associação Genética , Genótipo , Técnicas de Genotipagem , Análise de Sequência de DNARESUMO
Previous studies have shown that the cell death-inducing DFF45-like effector-C (CIDEC) gene is involved in lipid storage and energy metabolism, suggesting that it is a potential candidate gene that affects body measurement traits (BMTs) and meat quality traits (MQTs). The aim of this study was to identify polymorphisms of the bovine CIDEC gene and analyze their possible associations with BMTs and MQTs in 531 randomly selected Qinchuan cattle aged between 18 and 24 months. DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism were employed to detect CIDEC single nucleotide polymorphisms (SNPs). We found five SNPs: two in exon 5 (SNP1, g.9815G>A and SNP2, g.9924C>T) and three in the 3'-untranslated region (SNP3, g.13281C>T; SNP4, g.13297A>G; and SNP5, g.13307G>A). SNP1 was a missense mutation that resulted in an arginine to glutamine amino acid change, and exhibited two genotypes (GG and AG). SNP2 was a synonymous mutation that exhibited three genotypes (CC, CT, and TT). SNP3, 4, and 5 were completely linked, and only exhibited two genotypes (CC-AA-GG and CT-AG-GA). We found significant associations between these polymorphisms and BMTs and MQTs (P < 0.05); GG, CT, and CT-AG-GA appeared to be the most beneficial genotypes. Therefore, CIDEC may affect BMTs and MQTs in Qinchuan cattle, and could be used in marker-assisted selection.
Assuntos
Pesos e Medidas Corporais , Estudos de Associação Genética , Genótipo , Carne , Tecido Adiposo/metabolismo , Animais , Bovinos , Éxons/genética , Frequência do Gene , Haplótipos , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
The incidence of urinary calculus (UC) is very high in Uyghur children in the Kashi region of Xinjiang, China, which seriously affects the growth and life quality of these children. This study was aimed at investigating the risk factors of UC in Uyghur children in Kashi region. One hundred fifteen Uyghur children (age <7 years) with UC who were treated in First People's Hospital in Kashi were enrolled in the case group. A 1:1 case-control study with a questionnaire was performed. The results showed that, among the 115 UC patients, there were more boys (71.3%) than girls (28.7%), and most cases had an onset age of 1-3 years (75.7%). A lower than primary school education in the mother, drinking unboiled water, water intake <500 mL/day, and eating too much sweets were risk factors [odds ratio (OR) = 2.385, 9.160, 3.263, and 8.945, respectively], whereas vegetable intake and exposure to summer sunshine of <2 h/day were protective factors against UC onset (OR = 0.154 and 0.344, respectively). Analysis of UC-related factors in 99 cases of <3-year-old children revealed that breastfeeding was also a protective factor (OR = 0.007), whereas frequent cow's milk intake within 5 months (OR = 2.414) and frequent "panada" intake (OR = 2.529) were risk factors. The occurrence of UC in Uyghur children in the Kashi region is mainly affected by maternal educational background, quality of drinking water, water intake volume, and dietary pattern. Furthermore, geography may also have a role.
Assuntos
Dieta/efeitos adversos , Cálculos Urinários/epidemiologia , Animais , Estudos de Casos e Controles , Bovinos , Criança , Pré-Escolar , China , Etnicidade , Feminino , Frequência do Gene , Humanos , Lactente , Masculino , Leite/efeitos adversos , Fatores de Risco , Inquéritos e Questionários , Cálculos Urinários/patologia , Água/efeitos adversosRESUMO
Silent information regulator 5 (SIRT5), a member of the Sirtuin family class III nicotinamide adenine dinucleotide-dependent protein deacetylases, plays an important role in metabolic and aging processes in mammals. We identified 4 single-nucleotide polymorphisms (SNPs) (G22010A, G22052A, G22119T, and G22245C) in the 3' untranslated regions of the SIRT5 gene from 572 Qinchuan cattle by sequencing and investigating their association with growth and ultrasound traits. The frequencies of genotype GG and allele G were high at the 4 SNPs. Based on the X(2) test, the genotypic distributions of the 4 SNPs were not in Hardy-Weinberg equilibrium (P < 0.05 or P < 0.01). Association analysis of individual SNPs and haplotype combinations revealed that the 4 loci were significantly associated with some body measurement and ultrasound traits in Qinchuan cattle, and the H1H5 (AG-GA-GG-GG) diplotypes had better performance than other combinations in Qinchuan cattle. Our results demonstrate that SIRT5 may be a candidate for marker-assisted selection in future breeding programs for Qinchuan cattle.
Assuntos
Bovinos/genética , Polimorfismo de Nucleotídeo Único , Sirtuínas/genética , Animais , Sequência de Bases , Tamanho Corporal/genética , Cruzamento , Bovinos/anatomia & histologia , Bovinos/crescimento & desenvolvimento , Frequência do Gene , Estudos de Associação Genética , Loci Gênicos , Desequilíbrio de Ligação , Músculo Esquelético/anatomia & histologia , Músculo Esquelético/diagnóstico por imagem , Análise de Sequência de DNA , Gordura Subcutânea/anatomia & histologia , Gordura Subcutânea/diagnóstico por imagem , UltrassonografiaRESUMO
Plant ß-1,3-glucanases are commonly involved in disease resistance. This report describes the cloning and genetic transformation of a ß-1,3-glucanase gene from peanut. The gene was isolated from both the genomic DNA and cDNA of peanut variety Huayu20 by polymerase chain reaction (PCR) and reverse transcription PCR (RT-PCR), respectively. The DNA sequence contained 1471 bp including two exons and one intron, and the coding sequence contained 1047 bp that coded for a 348-amino acid protein with a calculated molecular weight of 38.8 kDa. The sequence was registered in NCBI (GenBank accession No. JQ801335) and was designated as Ah-Glu. As determined by BLAST analysis, the Ah-Glu protein has 42-90% homology with proteins from Oryza sativa (BAC83070.1), Zea mays (NP_001149308), Arabidopsis thaliana (NP_200470.1), Medicago sativa (ABD91577.1), and Glycine max (XP_003530515.1). The over-expression vector pCAMBIA1301-Glu containing Ah-Glu was constructed, confirmed by PCR and restriction enzyme digestion, and transformed into peanut variety Huayu22 by Agrobacterium EHA105-mediated transformation. The putative transformed plants (T0) were confirmed by PCR amplification. RT-PCR analysis and ß-glucuronidase (GUS) staining showed that the transferred Ah-Glu was expressed as mRNA and protein. In a laboratory test, the transgenic plants were found to be more resistant to the fungal pathogen Cercospora personata than the non-transgenic plants were.
Assuntos
Arachis/enzimologia , Resistência à Doença/genética , Glucana 1,3-beta-Glucosidase/genética , Transformação Genética , Glucana 1,3-beta-Glucosidase/metabolismo , Glucuronidase/genética , Dados de Sequência Molecular , Oryza , Plantas Geneticamente Modificadas , RNA Mensageiro/biossínteseRESUMO
Qinchuan is a red or yellow draft and beef breed in China. In order to identify a predictor of carcass traits on the basis of associations between carcass traits and gene polymorphism, variation in the bovine chemerin gene was investigated using PCR-single-strand conformational polymorphism and DNA sequencing. An SNP of A868G located in exon 2 of the Bos taurus chemerin gene was detected in 716 samples of six breeds (Jiaxian red, Luxi, Nan yang, Qinchuan, Simmental and Luxi crossbred steers, and Xia'nan), all in China, and three genotypes (AA, AG and GG) were found. Based on the χ(2) test, the AA/AG/GG genotype frequencies of all six breeds were found to be in Hardy-Weinberg equilibrium. A possible association of A868G with some carcass traits was investigated in 106 Qinchuan cattle. Animals with the AG genotype were found to have significantly lower mean loin eye area and meat tenderness compared to those with the AA and GG genotypes. However, there was no significant association between any individual haplotype and backfat thickness, water holding capacity or marbling score. We suggest that A868G could be used as a molecular marker in marker-assisted selection for carcass traits.
Assuntos
Tamanho Corporal/genética , Bovinos/genética , Quimiocinas/genética , Éxons/genética , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas/fisiologia , Animais , Cruzamento , China , Marcadores Genéticos , Genótipo , EsqueletoRESUMO
The myogenic determination 1 (MyoD1) gene is a member of the MyoD gene family. It encodes for skeletal muscle-specific transcription factors containing highly conserved basic helix-loop-helix regions that perform important roles in the initiation, maintenance, and regulation of phenotypic traits. We investigated a new single nucleotide polymorphism (SNP) in the MyoD1 gene to evaluate whether this polymorphism affects meat quality traits in five Chinese indigenous cattle breeds, namely Qinchuan (QC), Xia-Nan (XN), Nan-yang (NY), Luxi (LX), and Jia-xian red (JXR). A CâG transversion at position 624 was detected in exon 1 of the MyoD1 gene; it causes an amino acid substitution ((624)serine/(624)cysteine). Least squares analysis showed that this SNP is not significantly associated with back fat thickness, eye muscle area, intramuscular fat, or marbling. The A/B allelic frequencies in the five breeds were 0.810/0.189, 0.779/0.220, 0.768/0.231, 0.820/0.180, and 0.801/0.198, respectively. Based on the χ(2) test, the genotype distributions of four cattle breeds (LX, NY, QC, and XN) did not agree with Hardy-Weinberg equilibrium (P < 0.05); one breed (JXR) did not deviate significantly from Hardy-Weinberg equilibrium (P > 0.05). The genotypic frequencies among all five cattle breeds showed moderate diversity (0.25 < polymorphism information content < 0.5). We concluded that the C624G SNP of the MyoD1 gene does not influence meat quality traits in indigenous Chinese cattle breeds; however, this SNP could be included in breed composition and population admixture analyses due to the marked differences in allelic frequencies among these five breeds.