scholarly journals PCR-SSCP and <i>Hin6</i>I PCR-RFLP detecting novel anonymous SNPs within ovine <i>PROP1</i> gene (Brief report)

2008 ◽  
Vol 51 (6) ◽  
pp. 622-623
Author(s):  
X. Lan ◽  
C. Pan ◽  
S. Hu ◽  
H. Chen

Abstract. PROP1 plays a direct or indirect key role in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes (WU et al., 1998). Mutations of PROP1 are responsible for deficiencies of POU1F1, GH, prolactin (PRL) and thyroid stimulating hormone (TSH) in Snell and Jackson dwarf mice and in man, as well as deficiencies of LH and FSH, suggesting that the PROP1 gene is a potential candidate gene associating with production traits in animal breeding and genetics. To date, no polymorphism of PROP1 gene has been reported in ruminant animals except bovine (PAN et al., 2007). So, the objective of this study is to investigate the polymorphism of all coding regions within ovine PROP1 gene by PCR-SSCP, DNA sequencing and PCR-RFLP methods, which will possibly contribute to conducting association analysis and evaluating them as genetic markers in animal breeding and genetics.

2020 ◽  
Vol 51 (Special) ◽  
Author(s):  
Ahmed & AL-Barzinji

The aim of study was to investigate the potential candidate gene SEMA3E, TLX and GH and their association with the economic traits, which is becoming increasingly important in poultry breeding program. A total of 72 genomic DNA samples from three female local lines of quail including (desert, brown and white) were collected to determine the association of genes with reproduction trait using PCR-RFLP Technique. According to growth performance the Best Linear Unbiased Prediction (BLUP) value in selected females for high (H) and low (L) production traits was ranged from -9.2173 to 0.3827. This value is used to estimate body weight at first egg (BWFE), age at first egg (AFE), weight at first egg (WFE), Egg number per Bird (ENPH), Average egg weight (EWTA), and hen day (HD) in three lines. The results indicate that there was a wide intra specific SEMA3E, TLX and GH variability among these local quails which identifying twelve differences genotypes. The identified genotypes for all genes had a significantly (P<0.05) affected on the reproduction trait during first 150 days. The quail’s genotype AAABAA always exhibited the largest body weight at first egg in desert H line, while L line of white was greater in Egg number per bird and hen day of the genotype ACCCAC. No significant associations were observed between all loci and age at first egg trait among local quails. The results indicate that there are agreements between BLUP values with PCR-RFLP results to achieve a favorable selection response in reproductive performance of local quail in Kurdistan region, Iraqi.


2018 ◽  
pp. 55-60
Author(s):  
Andrea Nyisalovits ◽  
János Posta ◽  
Levente Czeglédi ◽  
Diána Juhász ◽  
László Babinszky

The H-FABP gene was defined as a potential candidate gene influencing the fat deposition traits, primarily the intramuscular fat content. The aim of this study is to define whether the previously reported gene mutations are connected with the slaughter traits measured in a standard slaughterhouse. The study included data from 405 gilts and barrows from 2 different samples. The two chosen mutation (HFABP1: c. 103 T>C, HFABP2: c. 1970 T>C) were detected in one reaction with PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Lenght Polymorphism) method with HinfI restrictoin enzyme. The allel frequencies are as follows: 103T(H)=0.75; 103C(h)=0.25, 1970T=0.32; 1970C=0.68. A HFABP1 mutation has significant effect on backfat thickness and lean meat % at stable 1 (sample 1), but there were no effect at stable 2 (sample 2). The analysis of values of production traits, depending on HFABP2 genotype did not reveal significant differences. Based on this study we can’t get a clear conclusion on the impact of polymorphisms on production parameters. In the examined flock the allele frequency of mutation in 5 'UTR is identical to the literature data, i. e. the more favorable variant regarding the intramuscular fat content is predominant in the population.


Author(s):  
I. D. Mitioglo ◽  

Genetic polymorphism of milk proteins, in particular kappa-casein, is of considerable research interest due to its possible associations with economically important traits of dairy cattle. The aim of the study was to determine the polymorphism of the kappa-casein gene and its association with signs of milk productivity in cows of different breeds. Polymorphism of the kappa-casein gene was studied in cows of Ukrainian red-spotted dairy (UCHERM), Ukrainian black-spotted dairy (UCHRM), Montbeliard (M) breeds and crossbred cows obtained by crossing cows of Ukrainian red-spotted dairy breed with Mongolians. DNA studies were performed in the Department of Animal Genetics and Biotechnology of the Institute of Animal Breeding and Genetics nd. a. M.V.Zubets NAAS using the PCR-RFLP method. As a result of research, three genotypes of the kappa-casein gene were identified: AA, AB, BB. Genotypes AA and AB were found in all studied groups of cows, genotype BB was found only in cows of Montbeliard breed with a frequency of 0.366. The highest hopes for 305 days of the first lactation among all studied cows were in crossbred cows with genotype AB (7029 kg), the lowest - in crossbred animals with genotype AA (6359 kg). According to the distribution of genotypes and alleles of the kappa-casein gene, domestic breeds of UCHRM and UCHERM are similar in genetic structure and have a low concentration of B-allelic variant, apparently due to the fact that these breeds were created by reproductive crossing with Holstein breed, in populations of which this allele quite low. The presence of such genotypes in the studied groups of first-borns is determined by the peculiarities of selection work in the herd of SE "DG" Niva "of the Institute of Animal Breeding and Genetics named after MV Tooth of NAAS ». Research results genotypes and alleles of the kappa-casein gene is an additional genetic characteristic of animals, which makes it possible to create herds with the desired characteristics of milk productivity


2007 ◽  
Vol 73 (1-3) ◽  
pp. 8-12 ◽  
Author(s):  
X.Y. Lan ◽  
C.Y. Pan ◽  
H. Chen ◽  
C.L. Zhang ◽  
J.Y. Li ◽  
...  

2008 ◽  
Vol 36 (8) ◽  
pp. 2069-2073 ◽  
Author(s):  
Xianyong Lan ◽  
Chuanying Pan ◽  
Liangzhi Zhang ◽  
Miao Zhao ◽  
Chunlei Zhang ◽  
...  
Keyword(s):  

2015 ◽  
Vol 117 (suppl_1) ◽  
Author(s):  
Alexander Benz ◽  
Hugo A Katus ◽  
David Hassel

The most common outcome of heart failure (HF) is sudden cardiac death which results mostly from prolonged action potential duration (APD) and arrhythmias. During the pathogenesis and progression of HF, a vast number of signaling pathways are altered. microRNAs are small noncoding RNAs that post-transcriptionally finetune gene expression. Interestingly, several microRNAs are dysregulated during HF, suggesting a potential involvement in the development and progression of the disease. Here, we identified miR-19 as an important regulator of heart function. Zebrafish lacking miR-19 developed severe bradycardia and reduced cardiac contractility. While the mammalian genome encodes for two isoforms of miR-19, zebrafish express four members (19a-d). We found that the reduction of miR-19b specifically is sufficient to cause bradycardia and reduced cardiac contractility. Imaging of ventricular APs from whole hearts revealed that APD is significantly prolonged and repolarization is impaired in miR-19b deficient zebrafish. By qRT-PCR experiments we showed that the expression of several cardiac ion channels is altered. Moreover, miR-19b deficiency results in increased sensitivity to an AV-Block, which is a characteristic feature of long QT-Syndrome in zebrafish. In conclusion, we identified miR-19b as a novel and essential modulator of the electrical activity of the heart and establish miR-19b as a potential candidate gene causative for human long QT syndrome.


2020 ◽  
Vol 9 (3) ◽  
pp. 818 ◽  
Author(s):  
Vera Gallo ◽  
Emilia Cirillo ◽  
Rosaria Prencipe ◽  
Alessio Lepore ◽  
Luigi Del Vecchio ◽  
...  

Very high IgM levels represent the hallmark of hyper IgM (HIGM) syndromes, a group of primary immunodeficiencies (PIDs) characterized by susceptibility to infections and malignancies. Other PIDs not fulfilling the diagnostic criteria for HIGM syndromes can also be characterized by high IgM levels and susceptibility to malignancies. The aim of this study is to characterize clinical phenotype, immune impairment, and pathogenic mechanism in six patients with very high IgM levels in whom classical HIGM syndromes were ruled out. The immunological analysis included extended B-cell immunophenotyping, evaluation of class switch recombination and somatic hypermutation, and next generation sequencing (NGS). Recurrent or severe infections and chronic lung changes at the diagnosis were reported in five out of six and two out of six patients, respectively. Five out of six patients showed signs of lymphoproliferation and four patients developed malignancies. Four patients showed impaired B-cell homeostasis. Class switch recombination was functional in vivo in all patients. NGS revealed, in one case, a pathogenic mutation in PIK3R1. In a second case, the ITPKB gene, implicated in B- and T-cell development, survival, and activity was identified as a potential candidate gene. Independent of the genetic basis, very high IgM levels represent a risk factor for the development of recurrent infections leading to chronic lung changes, lymphoproliferation, and high risk of malignancies.


2020 ◽  
Vol 21 (24) ◽  
pp. 9429
Author(s):  
Qiang Li ◽  
Jia Fu ◽  
Xiujuan Qin ◽  
Wen Yang ◽  
Jingjing Qi ◽  
...  

The present study was designed to serve as a comprehensive analysis of Citrus sinensis (C. sinensis) pectin acetylesterases (CsPAEs), and to assess the roles of these PAEs involved in the development of citrus bacterial canker (CBC) caused by Xanthomonas citri subsp. citri (Xcc) infection. A total of six CsPAEs were identified in the genome of C. sinensis, with these genes being unevenly distributed across chromosomes 3, 6, and 9, and the unassembled scaffolds. A subset of CsPAEs were found to be involved in responses to Xcc infection. In particular, CsPAE2 was identified to be associated with such infections, as it was upregulated in CBC-susceptible variety Wanjincheng and inversely in CBC-resistant variety Calamondin. Transgenic citrus plants overexpressing CsPAE2 were found to be more susceptible to CBC, whereas the silencing of this gene was sufficient to confer CBC resistance. Together, these findings provide evolutionary insights into and functional information about the CsPAE family. This study also suggests that CsPAE2 is a potential candidate gene that negatively contributes to bacterial canker disease and can be used to breed CBC-resistant citrus plants.


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