Association between Single Nucleotide Polymorphisms in TYW5 Locus and Beef Amino Acids Content in Shuxuan Cattle

Background: Shuxuan cattle is a crossed cattle breed in southwest of China, by crossing the indigenous Bashan cattle with two exotic breeds. The objective of this study was to estimate allele frequencies of the g.88925365A greater than C in TYW5 gene in Shuxuan cattle and to evaluate association between this polymorphism and meat quality traits. Methods: The SNP g.88925365A greater than C was genotyped in 151 Shuxuan cattle and subjected to association analysis with the 17 amino acid content and total amino acid. Result: The AC was the main genotype with 41.06% and C was the predominant allele with 50.99% at this locus. The allele diversity based on the He (0.4998), Ne (1.9992) and PIC (0.3749) revealed moderate genetic variation within Shuxuan cattle population. Significant association (P less than 0.05) was observed between the polymorphism and six amino acid content (Glu, Asp, Val, Ile, Ser and Cys). These results provided a potential genetic marker for the genetic improvement of meat quality in Shuxuan cattle.

A Novel 65-bp Indel in the GOLGB1 Gene Is Associated with Chicken Growth and Carcass Traits

Golgin subfamily B member 1 (GOLGB1) gene encodes the coat protein 1 vesicle inhibiting factor, giantin. Previous study showed that mutations of the GOLGB1 gene are associated with dozens of human developmental disorders and diseases. However, the biological function of GOLGB1 gene in chicken is still unclear. In this study, we detected a novel 65-bp insertion/deletion (indel) polymorphism in the chicken GOLGB1 intron 5. Association of this indel with chicken growth and carcass traits was analyzed in a yellow chicken population. Results showed that this 65-bp indel was significantly associated with chicken body weight (p < 0.05), highly significantly associated with neck weight, abdominal fat weight, abdominal fat percentage and the yellow index b of breast (p < 0.01). Analysis of genetic parameters indicated that “I” was the predominant allele. Except for the yellow index b of breast, II genotype individuals had the best growth characteristics, by comparison with the ID genotype and DD genotype individuals. Moreover, the mRNA expression of GOLGB1 was detected in the liver tissue of chicken with different GOLGB1 genotypes, where the DD genotype displayed high expression levels. These findings hinted that the 65-bp indel in GOLGB1 could be assigned to a molecular marker in chicken breeding and enhance production in the chicken industry.

HLA-DQB genetic susceptibility and rheumatic heart disease: a case-control study

Background Rheumatic heart disease is a major global health concern, especially in low- and middle-income countries. The pathogenesis is attributable to an aberrant immune response, host genetic factors, and socioeconomic status. The objective of this study was to screen HLA-DQB1 alleles as genetic susceptibility markers in rheumatic heart disease patients in Assam, North East India, and to correlate the predominant allele with socioeconomic status and clinical profile. Methods A case-control study of 100 echocardiography-confirmed rheumatic heart disease patients and age- and sex-matched healthy controls from Assam Medical College and Hospital was conducted. Human leukocyte antigen typing was performed using HLA-DQ typing kit. A questionnaire was designed to study the socioeconomic status and clinical profile of rheumatic heart disease patients. Results Among the 9 alleles studied, HLA-DRBQ1*03:01 was found to be the statistically significant predominant allele in this population, especially in the Ahom ethnic group. In the HLA-DRBQ1*03:01-positive population, rural dwelling was found to be a significantly increased risk factor for rheumatic heart disease. Among severe cases, 90% of mitral stenosis, 40% of mitral regurgitation, and 33.3% of aortic regurgitation cases were HLA-DRBQ1*03:01-positive. Also, 50% of aortic valve thickening and 36.8% of mitral valve thickening cases were found in this population. Conclusion Our data suggest that HLA-DRBQ1*03:01 is a significant susceptibility marker in this population, and predominant in the rural population. Furthermore, it may play an important role in determining the pattern of valve damage in rheumatic heart disease patients.

Developmental Stage-Specific Imprinting ofIPLin Domestic Pigs (Sus scrofa)

Imprinted in placenta and liver (IPL) gene has been identified as an imprinted gene in the mouse and human. Its sequence and imprinting status, however, have not been determined in the domestic pigs. In the present study, a 259 base pair-specific sequence forIPLgene of the domestic pig was obtained and a novel SNP, a T/C transition, was identified inIPLexon 1. The C allele of this polymorphism was found to be the predominant allele in Landrace,Yorkshire, and Duroc. The frequency of CC genotype and C allele are different in Duroc as compared with Yorkshire (P=.038andP=.005, resp.). Variable imprinting status of this gene was observed in different developmental stages. For example, it is imprinted in 1-dayold newborns (expressed from the maternal allele), but imprinting was lost in 180-day-old adult (expressed from both parental alleles). Real-time PCR analysis showed the porcineIPLgene is expressed in all tested eight organ/tissues. The expression level was significantly higher in spleen, duodenum, lung, and bladder of 180-day-old Lantang adult compared to that in 1-day-old newborns Lantang pigs (P<.05). In conclusion, the imprinting of the porcineIPLgene is developmental stage and tissue specific.

HLA B-27 Subtypes in Turkish Patients with Spondyloarthropathy and Healthy Controls

The frequency and the distribution of HLA-B27 subtypes in spondylarthropathy (SpA) patients and controls were investigated in a sample Turkish population. B27 subtyping was performed by PCR-SSP method in two groups: 49 unrelated HLA-B27 positive Turkish patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group Criteria, and 55 HLA-B27 positive healthy controls. The frequency of HLA-B∗27 was 2.6% in the Turkish population, and B∗2705 was the predominant allele among patients with SpA. The difference was mainly between male patients and male controls The proportion of B∗2705 among B27-positive patients and controls was significantly different (P = 0.02). Our study supports other reports from different populations which showed that B∗2705 and B∗2702 were more frequent in Caucasian patients with SpA.