RESUMO
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb. Additionally, there was a gain in copy number on the long arm of chromosome 22, spanning at least 3.46 Mb. FISH analysis using a chromosome 11 short arm telomere probe (11p14.2), a chromosome 11 long arm telomere probe (11q24.3), and a chromosome 22 long arm telomere probe (22q13.33) confirmed the origin of the marker chromosome. It has been confirmed by the State Key Laboratory of Medical Genetics of China that this is the first reported instance of the karyotype 47,XX, +der(22)t(11;22)(q23.3;q11.1)mat in the world. Our study reports an additional case that can be used to further characterize and delineate the clinical ramifications of partial trisomy of 11q and 22q.
Assuntos
Anormalidades Múltiplas/genética , Deficiência Intelectual/genética , Trissomia/genética , Criança , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 22/genética , Hibridização Genômica Comparativa/métodos , Feminino , Humanos , CariótipoRESUMO
Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clinical-pathologic features of Kazakh breast cancer patients and BRCA1/2 mutations were also investigated. Two unclassified variants (T539M and T1915M) and 16 polymorphisms were detected in this study, 4 of which (G356A, His743, Asn991Asp, Val1269) were detected more frequently in breast cancer patients than in healthy controls. We observed a higher prevalence of BRCA1/2 common sequence alterations and a large number of Kazakh women carrying multiple co-existing BRCA1/2 mutations. The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations. Although no significant differences were observed, BRCA1/2 carriers were generally younger at diagnosis of wild-type breast cancer patients. BRCA1-associated Kazakh sporadic breast cancers present with high tumor grade, early stage, negative lymph node status, absence of estrogen receptor expression and progesterone-positive status. Estrogen receptor expression was the only predominant histological type in BRCA2 carriers. In this study, we determined the BRCA1 and BRCA2 gene mutation status and determined the association with clinical-pathologic characteristics in a Chinese Kazakh population. Larger population-based screening studies screening the entire coding region of BRCA1/2 are required to evaluate the breast cancer risk induced by the sequence alterations detected in this study.
Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Etnicidade/genética , Genes BRCA1 , Genes BRCA2 , Mutação , Adulto , Idoso , Alelos , Biomarcadores Tumorais , Neoplasias da Mama/epidemiologia , Estudos de Casos e Controles , China/epidemiologia , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genótipo , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Metástase Neoplásica , Estadiamento de NeoplasiasRESUMO
The fat mass- and obesity-associated gene (FTO) is involved in energy metabolism, but little is known about the chicken FTO gene. The objective of the current study was to detect chicken FTO expression patterns in the hypothalamus, liver, and skeletal muscle during development, and analyze the effects of age and breed on FTO expression. Real-time quantitative polymerase chain reaction results revealed that chicken FTO mRNA was expressed in all of the tissues tested. Chicken FTO exhibited tissue- and breed-specific patterns in the recessive White Plymouth Rock chicken and the Qingyuan partridge chicken. The highest FTO expression level was in the hypothalami of 1-week-old chicks. FTO mRNA was expressed more in the breast muscles and livers of recessive White Plymouth Rock chickens than those of Qingyuan partridge chickens at 1 and 8 weeks of age. These results indicate that FTO probably plays a significant role in energy metabolism at 1 week old, when chicks have undergone metabolic adaptations from yolk dependence to the utilization of exogenous feed.
Assuntos
Proteínas Aviárias/genética , Galinhas/genética , Regulação da Expressão Gênica no Desenvolvimento , Metabolismo dos Lipídeos/genética , Carne , RNA Mensageiro/genética , Animais , Proteínas Aviárias/metabolismo , Peso Corporal , Cruzamento , Embrião de Galinha , Galinhas/crescimento & desenvolvimento , Metabolismo Energético/genética , Feminino , Hipotálamo/crescimento & desenvolvimento , Hipotálamo/metabolismo , Fígado/crescimento & desenvolvimento , Fígado/metabolismo , Masculino , Músculo Esquelético/crescimento & desenvolvimento , Músculo Esquelético/metabolismo , Especificidade de Órgãos , RNA Mensageiro/metabolismo , Especificidade da EspécieRESUMO
The micromolar calcium-activated neutral protease gene (CAPN1) is a physiological candidate gene for meat tenderness. Four previously identified single nucleotide polymorphism (SNP) markers located within the CAPN1 gene were evaluated for their associations with variation in the meat tenderness of a Chinese indigenous chicken breed, a higher meat quality breed (i.e., Qingyuan partridge chicken), and the commercial Recessive White chicken breed. Warner-Bratzler shear force measurements were used to determine tenderness phenotypes for all animals; intramuscular fat (IMF) content and rate of water loss in the breast muscles were also measured. Genotyping was performed by the polymerase chain reaction-ligase detection reaction method. Polymorphisms were identified for all markers, except CAPN1 2546. The frequency of allele T was zero, and allele C was fixed for CAPN1 2546 in the studied populations. The SNP CAPN1 3535 in the CAPN1 gene was significantly associated with tenderness and other meat quality traits, where animals inheriting the AA genotype had smaller shear force values, lower water loss rates, and higher IMF contents. Moreover, H1 (AAA) was the most advantageous haplotype for meat tenderness. The results of this study confirm some previously documented associations. Furthermore, novel associations have been identified that, following validation in other populations, could be incorporated into breeding programs to improve meat quality.
Assuntos
Calpaína/genética , Calpaína/fisiologia , Galinhas/genética , Carne , Polimorfismo de Nucleotídeo Único , Alelos , Animais , Cruzamento , Frequência do Gene , Marcadores Genéticos/genética , Genótipo , Haplótipos , Fenótipo , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Resistência ao CisalhamentoRESUMO
Growth hormone (GH) has diverse functions in animals, together with other hormones from the somatotropic axis. Here, chicken GH (cGH) was investigated in recessive white chickens and Qingyuan partridge chickens as a candidate gene affecting egg production traits. Chicken egg production traits were studied in association with 4 selected single nucleotide polymorphisms (T185G, G662A, T3094C, and C3199T). Genotyping was performed by the polymerase chain reaction-ligase detection reaction method. T185G was significantly associated with the egg production traits of body weight at first egg (BW), egg weight at first egg (EW), and the total egg production of 300-day old birds (EN 300). T3094C was also significantly associated with certain egg production traits; however, it affected the 2 breeds differently. Haplotypes of the 4 single nucleotide polymorphisms were also significantly associated with egg production traits of chicken age at first egg laying, BW, EW, and EN 300. H1H6 was the most advantageous diplotype for egg production. We putatively concluded that polymorphisms in the cGH gene and its haplotypes could be used as potential molecular markers for egg production traits to enhance the breeding programs of indigenous chickens.
Assuntos
Galinhas/genética , Hormônio do Crescimento/genética , Oviparidade/genética , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Animais , Peso Corporal , Cruzamento , Ovos , Feminino , Haplótipos , FenótipoRESUMO
Chinese black-bone chickens are valued for the medicinal properties of their meat in traditional Chinese medicine. We investigated the genetic diversity and systematic evolution of Chinese black-bone chicken breeds. We sequenced the DNA of 520 bp of the mitochondrial cyt b gene of nine Chinese black-bone chicken breeds, including Silky chicken, Jinhu black-bone chicken, Jiangshan black-bone chicken, Yugan black-bone chicken, Wumeng black-bone chicken, Muchuan black-bone chicken, Xingwen black-bone chicken, Dehua black-bone chicken, and Yanjin black-bone chicken. We found 13 haplotypes. Haplotype and nucleotide diversity of the nine black-bone chicken breeds ranged from 0 to 0.78571 and 0.00081 to 0.00399, respectively. Genetic diversity was the richest in Jinhu black-bone chickens and the lowest in Yanjin black-bone chickens. Analysis of phylogenetic trees for all birds constructed based on hyplotypes indicated that the maternal origin of black-bone chickens is predominantly from three subspecies of red jungle fowl. These results provide basic data useful for protection of black-bone chickens and help determine the origin of domestic chickens.
Assuntos
Cruzamento , Galinhas/genética , Variação Genética , Carne , Animais , Animais Domésticos/genética , DNA Mitocondrial/genética , Haplótipos , Medicina Tradicional Chinesa , FilogeniaRESUMO
The peroxisome proliferators-activated receptor-γ coactivator-1α (PGC-1α) is a candidate gene for meat quality traits because of its prominent role in muscle fiber type switching and determination. We investigated the effects of the PGC-1α gene on chicken skeletal muscle fiber type switching and on other meat quality traits. Single nucleotide polymorphisms were detected by PCR-SSCP and DNA sequencing, and then genotyping was performed by PCR-ligation detection reaction methods. Skeletal muscle fiber types, intramuscular fat content, shear forces, and water loss rate of the gastrocnemius lateralis muscle were measured in Qingyuan Partridge chickens and Recessive White chickens. Four SNPs, C171T in exon2, C384T in exon3, G646A in exon5, and A948G in exon8 were detected. Marker-trait association analysis indicated that G646A polymorphism was associated with skeletal myofiber type and that H1 (CCAA) was the most advantageous haplotype for skeletal myofiber type. We concluded that polymorphisms of the PGC-1α gene and their haplotypes are associated with chicken skeletal myofiber type traits.