scholarly journals FSHR (exon 10) gene polymorphisms and its association with fertility trait in Egyptian Ossimi sheep

2019 ◽  
Vol 35 (2) ◽  
pp. 127-140
Author(s):  
Salah Abdel-Rahman ◽  
Yehia Mustafa ◽  
Hagar Errasool ◽  
Hanim Heikal ◽  
Ayaat Elmaghraby

For the association between of Follicle stimulating hormone receptor (FSHR) gene (partial part of exon 10) polymorphisms and litter size trait in Egyptian Ossimi sheep, polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) and DNA sequencing techniques were developed. Fifty female Ossimi sheep reared under Egyptian conditions were selected according to their litter size. DNA from blood samples of these animals was isolated to amplify 250-bp of the FSHR gene influencing litter size production trait in sheep. Based on litter size, 50 animals were selected from the highest to the lowest litter size productivity during three seasons. PCR-SSCP analysis of the FSHR gene (250-bp) showed two various genotypes AA and with frequencies 0.64 and 0.36, respectively. The frequencies of the A and B alleles were 0.82 and 0.18, respectively. PCR fragment of FSHR gene (191-bp) was sequenced only in the high and low litter size productivity animals (GenBank accession numbers from MG973191 to MG973207, sequentially). The result indicated that 6SNPs (G/71, G/72, G/77, A/110, A/111, A/191) in high fertile animals, while, 10 SNPs (T/1, C/2, T/14, A/69, A/70, A/71, A/74, G/74, A/75, A/136) have found in low fertile animals. Statistically, AA and genotypes have no significant differences (p> 0.05) on litter size trait in Ossimi sheep. FSHR (exon 10) locus was moderate polymorphic (PIC= 0.25) and it can be used for high litter size productivity in Ossimi sheep as a marker-assisted selection (MAS).

2020 ◽  
Vol 100 (4) ◽  
pp. 683-690
Author(s):  
Zongyue Liu ◽  
Linling Liu ◽  
Xingchao Song ◽  
Zhishuang Huo ◽  
Bo Cong ◽  
...  

The present study was designed to investigate comparative expressions of follicle-stimulating hormone beta subunit (FSHβ) and nuclear receptor coactivator 1 (NCOA1) genes by real-time polymerase chain reaction, using polymerase chain reaction single-strand conformation polymorphism methods to investigate the effects of gene polymorphisms on reproductive traits, including total number of kits born (TNB) and number of born alive (NBA) in pink-eyed white mink. Four single-nucleotide polymorphisms were identified in the FSHβ and NCOA1 genes. The g.1228G>A polymorphism of FSHβ was associated with NBA and TNB (P < 0.01). The g.151536T>C polymorphism of NCOA1 was associated with NBA and TNB (P < 0.01). The NCOA1 mRNA levels in hypothalamus, ovary, and uterus during the first half of gestation were higher than during the middle term and last half of gestation (P < 0.01). The FSHβ mRNA levels in the hypothalamus and uterus were higher during the first half of gestation than during the middle term and last half of gestation (P < 0.05). In conclusion, the g.1866T>C polymorphism of FSHβ and the g.151536T>C polymorphism of NCOA1 could be molecular markers for reproductive traits, and expressions of FSHβ and NCOA1 might be involved in the regulation of embryo attachment mechanisms in pink-eyed white mink breeding.


2020 ◽  
Vol 13 (5) ◽  
pp. 879-883
Author(s):  
Budi Utomo ◽  
Emmanuel Djoko Putranto ◽  
Amaq Fadholly

Background and Aim: The follicle-stimulating hormone (FSH) gene is an essential regulator of fertility in livestock. This study aims to provide information on the genetic makeup of Madrasin cattle experiencing hypofunction by the FSH profile and FSH receptors (FSHR) polymorphism. Materials and Methods: Blood samples were collected from the Bangkalan regency in Indonesia. DNA was isolated and purified following the extraction protocol of polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism. Results: Our results showed that the FSH gene had a band length of 310 bp and produce two alleles (A and B) with restriction enzymes at 250 bp, 230 bp, and 145 bp. Furthermore, the FSHR gene had a band length of 303 bp and produced two homozygous genotypes: GG at bp 239 and CC at bp 188. Conclusion: Based on these differences, there was no change in allele frequency and genotype between Madura and Madrasin cattle due to crossbreeding with Limousin cattle. Thus, further detailed investigations of Madrasin cattle are required to elucidate the profile of the LH and LHR genes.


Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 949
Author(s):  
Asta Raskiliene ◽  
Alina Smalinskiene ◽  
Vilma Kriaucioniene ◽  
Vaiva Lesauskaite ◽  
Janina Petkeviciene

MC4R, LEP, and LEPR genes are involved in the hypothalamic leptin-melanocortin regulation pathway, which is important for energy homeostasis. Our study aimed to evaluate the associations between the MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms with obesity-related parameters in childhood and adulthood. The data were obtained from the Kaunas Cardiovascular Risk Cohort study, which started in 1977 with 1082 participants aged 12–13 years. In 2012–2014, the follow-up survey was carried out. Genotype analysis of all respondents (n = 509) aged 48–49 years was performed for the gene polymorphisms using Real-Time Polymerase Chain Reaction. Anthropometric measurements were performed in childhood and adulthood. In childhood, only skinfold thicknesses were associated with gene variants being the lowest in children with MC4R TT genotype and LEP AG genotype. In adulthood, odds of obesity and metabolic syndrome was higher in MC4R CT/CC genotype than TT genotype carriers (OR 1.8; 95% CI 1.2–2.8 and OR 1.6; 95% CI 1.1–2.4, respectively). In men, physical activity attenuated the effect of the MC4R rs17782313 on obesity. The LEP GG genotype was associated with higher BMI, waist circumference, and visceral fat level only in men. No associations of the LEPR rs1137101 polymorphisms with anthropometric measurements and leptin level were found. In conclusion, the associations of the MC4R and LEP gene polymorphisms with obesity-related parameters strengthened with age.


2018 ◽  
Vol 16 ◽  
pp. 205873921876729
Author(s):  
An Wan ◽  
Daodong Liu

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.


2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Changshui Xu ◽  
Jun Xu ◽  
Yanmin Zhang ◽  
Jianjun Ma ◽  
Hideshi Kawakami ◽  
...  

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD).Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked.Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs.Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.


2011 ◽  
Vol 26 (S2) ◽  
pp. 1620-1620
Author(s):  
D.B. Jovanovic ◽  
A. Jovanovic ◽  
M. Ivkovic ◽  
M. Jasovic Gasic

IntroductionOne million people worldwide commit suicide each year; the number of attempters is 20 times larger. The diathesis to suicidal behavior is inherited independently from mental disorders and is most often associated with depression. The importance of serotonergic genes in the genesis of suicidal behavior and depression is assumed. The link between depression and suicidal behavior is hopelessness.ObjectivesAnalyzing the link of certain serotonergic alleles and genotypes with suicidal behavior and depression, as well as with hopelessness.AimsTo analyze the association of chosen serotonergic alleles and genotypes (5HTT LPR, LPR SNP, VNTR2; THP1 A218C, 5HTR1A C1019G; 5HTR2A T102C, C1354 T) with suicidal behavior, depression and hopelessness.MethodsThe study included 30 depressed suicide attempters, 30 depressed patients without attempt and 30 healthy controls. Polymerase Chain Reaction method was used to analyze serotonergic gene polymorphisms. Participants were tested with Beck Depression Inventory, Suicidal Intent Scale, Becks Hopelessness Scale.ResultsTwo analyzed polymorphisms are associated with depression, but not with suicidal behavior (5HTTintron 2 alele 10 and A218 of the TPH1 gene). Hopelessness is more prominent in depressed suicide attempters.ConclusionsThe results support the role of two serotonergic genes in the genesis of depression. Hopelessness is an important predictor of suicidal behavior. Further investigation of the role of serotonergic genes in various subtypes of suicidal behavior is suggested.


2019 ◽  
Vol 157 (6) ◽  
pp. 550-554 ◽  
Author(s):  
H. Gong ◽  
H. Zhou ◽  
W. Li ◽  
J. Wang ◽  
S. Li ◽  
...  

AbstractKRTAP8-1 was the initial high-glycine-tyrosine keratin-associated protein gene recognized in sheep, but little is known about the functional influence of this gene. The current study used polymerase chain reaction-single stranded conformational polymorphism analysis to genotype KRTAP8-1 in 391 Southdown × Merino-cross sheep from six sire-lines. Five previously described variants (named A to E) of KRTAP8-1 were identified with frequencies of 67.0, 14.2, 7.0, 10.7 and 1.0%, respectively. Of the four variants (A, B, C and D) that occurred at a frequency greater than 5%, the presence of C was found to be associated with a reduction in mean fibre curvature (MFC) and the presence of D was associated with an increase in mean staple strength (MSS), whereas the presence of A had a trend of association with reduced MSS. Associations were not identified with other wool traits. These results suggest that variation in KRTAP8-1 affects MSS and MFC, and that KRTAP8-1 has the potential to be used as a genetic marker for improving these traits.


2001 ◽  
Vol 68 (2) ◽  
pp. 333-336 ◽  
Author(s):  
JACEK BANIA ◽  
MACIEJ UGORSKI ◽  
ANTONI POLANOWSKI ◽  
ERYK ADAMCZYK

Numerous methods based on DNA analysis have been employed in the food industry to monitor adulterations of food products of animal origin. Among them the most frequently used are: polymerase chain reaction (PCR) amplification of a marker gene fragment(s) with universal primers, or amplification of DNA with species-specific primers. PCR-products of different origin can be discriminated by size, restriction fragment length polymorphism (RFLP) or single stranded conformational polymorphism (SSCP) analysis. These methods have been used for identification, and differentiation between, the animal origins of raw or heat-treated meat and meat products (Chikuni et al. 1994; Meyer et al. 1994, 1995; Zehner et al. 1998; Behrens et al. 1999; Guoli et al. 1999; Hopwood et al. 1999; Matsunaga et al. 1999; Wolf et al. 1999). These approaches are also applicable to the analysis of dairy products. However, adulterations of goats' milk and its products are traditionally tested by immunological and/or electrophoretic methods (Amigo et al. 1992; Levieux & Venien, 1994; Mimmo & Pagani, 1998). So far, only a few DNA-based techniques designed to detect the presence of bovine DNA in goats' milk have been described (Plath et al. 1997; Branciari et al. 2000). This paper presents a one-step PCR procedure for detection of adulteration of goats' milk with cows' milk. The method, employing bovine-specific primers for amplification of a 274 bp fragment of cytochrome b DNA, seems to be simple, fast, specific and sensitive.


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