470 research outputs found

    A SspI PCR-RFLP detecting a silent allele at the goat CSN2 locus

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    The comparison between the cDNA sequence obtained and the published sequences of the goat CSN2 alleles showed a new single nucleotide polymorphism (SNP) (transition C-T) at the 180th nucleotide of the ninth exon. This mutation, which took place at 124 nt from the polyadenylation site, identifies a silent allele at the CSN2 locus named CSN2 A1. Since the 9th exon C-T transition creates a SspI endonuclease restriction site, the SspI digestion of a PCR product of 360 bp spanning the 9th exon and flanking regions, would allow carriers for the presence of thymine to be identified. The allelic frequency of the CSN2 A1 allele, determined in 170 goats belonging to an undefined genetic type reared in the province of Naples (Italy), was 0.23 It has been observed that the sequences in the 3’ untranslated regions (UTR), proximal to the polyadenylation site, can affect the mechanism of mRNA deadenylation and degradation. Therefore, it is reasonable to hypothesize that the C-T transition might, directly or indirectly, influence the stability of the mRNA and, consequently, the amount of protein produced

    Molecular cloning, promoter analysis and SNP identification of Italian Nicastrese and Saanen lactoferrin gene

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    Lactoferrin (Lf) is an iron-binding glycoprotein found in exocrine secretions including milk. High levels of lactoferrin may have a role in the prevention of microbial infection of the mammary gland. In this report we sequenced and characterized goat lactoferrin cDNA and its promoter region in two different breeds of goat. The complete cDNA comprised 2356 nucleotides, including 38bp at the 5'-UTR and 194bp at the 3'-UTR. The open reading frame is 2127bp long and it encodes a mature protein of 689 aminoacids. A total of 19 nucleotide differences, 11 of them being responsible for 8 aminoacid changes, were identified through the comparison with French, Korean and Tibetan goat lactoferrin cDNAs. About 1700bp of the lactoferrin gene promoter were sequenced. Sequence analysis revealed a non-canonical TATA box, multiple SP1/GC elements, and other putative binding sites for transcription factors, such as NF-kappaB, STAT3 and AP2. Two SNPs were identified, one of which would seem to create a new putative AP2 consensus sequence. The presence of an additional AP2 binding site could be associated with quantitative differences of such protein fraction, which could enhance all the activities related to such protein, and improve mammary gland defence against bacterial infections

    Increased urinary volumes in symptomatic Ménière’s Disease

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    Objective. The purpose of the research is to test the measurement of the total urinary volume, induced by the diuretic osmotic action of mannitol, in a group of symptomatic MD patients and in healthy controls. Results. An altered excretory urinary volume after mannitol challenge was observed in symptomatic MD (874.3\u2009\ub1\u2009302.1) compared to healthy volunteers (361.7\u2009\ub1\u2009181.6) (p\u2009=\u20090.0001). This easy and self-administered method might be proposed to replace the analysis of the urinary sugars\u2019 concentration in symptomatic MD patients

    Mediterranean river buffalo oxytocin-neurophysin I (OXT) gene: structure, promoter analysis and allele detection

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    Oxytocin (OXT) is a very abundant nonapeptide neurohypophysial hormone implicated in several aspects of reproduction, including social, sexual and maternal behaviour, induction of labour and milk ejection. The nucleotide sequence of the whole OXTneurophysin I encoding gene (OXT) in Mediterranean river buffalo was determined, plus 993 nucleotides at the 5’ flanking region. Buffalo oxytocin gene sequence analysis showed two transitions in the promoter region (C→T in position – 966 and G→A in position – 790) and one transversion G→T at the 170th nucleotide of the second exon, responsible for the Arg97→Leu aa substitution which identifies an allele named OXT B. A PCR-RFLP based method for a rapid identification of carriers of these alleles has been developed

    Coronavirus disease 2019 : a lesson from history

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    Viral infections have become an increasingly worsening threat, SARS-Cov-2 is the third coronavirus that emerged during the past twenty years. The contagion can also occur by inhalation of aerosolized viruses, capable of floating in the air for long times (in closed spaces) and traveling unknown distances. Alesson from history shows that exclusive infectious disease hospitals with multiple building are still a modern architectural choice. Individual spaces are needed and this is an important way to reduce the viral load. Nowadays, the restrictions should involve not only the interpersonal relationships but also environmental measures

    Delayed Immunomodulatory Effect of Cow Milk-Free Diet in Meniere's Disease

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    Objective: Since 1930, dietary modification has been proposed as adjunct treatment in M\uc3\ua9ni\uc3\ua8re's disease (MD) with different and controversial results. We report the case of a 42-year-old female suffering from definite MD and intermittent seasonal allergic rhino-conjunctivitis because it highlights the importance of evaluating the different combinations of defined causative elements in an atopic patient with MD. Methods: An immunological and audiological evaluation was performed, including pure-tone, speech, and immittance audiometry; glycerol dehydration test; bithermal caloric testing; video head impulse test; cervical vestibular evoked myogenic potentials; static posturography; and Dizziness Handicap Inventory questionnaire. Results: A milk-free diet was crucial to relief from MD symptoms and a cow's milk challenge test was able to evoke them but vestibukar symptoms persist. Conclusions: The effect of dietary modification was evident only after specific immunotherapies against other allergens. This highlights the importance of evaluating different combinations of defined causative elements in the allergic treatment of MD
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