Thalassemia genetics

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Seth g s medical college and kem hospital mumbai

Santé & Médecine

Chromosomal organization of the
globin genes

Racial Group Description
Mediterranean IVS-1, position 110 (G → A)
Codon 39, nonsense (CAG → TAG)
IVS-1, position 1 (G → A)
IVS-2, position 745 (C → G)
IVS-1, position 6 (T → C)
IVS-2, position 1 (G → A)
Black -34 (A → G)
-88, (C → T)
Poly(A), (AATAAA → AACAAA)
Southeast Asian Codons 41/42, frameshift (-CTTT)
IVS-2, position 654 (C → T)
-28 (A → T)
Asian Indian IVS-1, position 5 (G → C)
619-bp deletion
Codons 8/9, frameshift (++G)
Codons 41/42, frameshift (–CTTT)
IVS-1, position 1 (G → T)

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Tendances

The phylum Thermotogae is characterized by the presence of extensive horizontal gene transfer (HGT). Highly similar genes are shared between genomes of different Thermotogae genera, other phyla (Firmicutes) or other kingdoms such as the Archaea [1]. Many of these organisms proliferate in hot extreme environments such as oil fields and hydrothermal vents. How HGT functions in these ecosystems is unclear, but phages might play a role as a transfer agent of genetic material. Thermotogae genomes contain CRISPR repeats, which are part of the defence machinery against phages. Another defence mechanism against phages is the restriction modifications system and genes related to this are found as well in several Ther- motogae genomes. The restriction modification system uses methyltransferase proteins to methylate bases of the DNA strand. Under a phage attack, this system detects the non-meth- ylated foreign DNA and utilizes restriction enzymes to degrade invading DNA. With the advancement of single-molecule, real-time (SMRT) sequencing it has become possible to detect- ed N4-methylcytosine (m4C) and N6-methyladenine (m6A) bases in bacterial genomes. Here we use SMRT genome sequencing to compare four Thermotogae isolates from deep-sea hydrothermal vents and compare their defence system set-up, including CRISPRs and base modifications, in order to understand the probable response to invading DNA.

Comparative analysis of genome methylation in Thermotogae isolates from deep-...

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Wei-Chih Tsai

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The ATP binding cassette (ABC) transporter ABCG5/ABCG8 mediates sterol excretion in liver and intestines. Mutations inactivating either ABCG5 or ABCG8 cause sitosterolemia, a rare autosomal recessive genetic disorder characterized by hypercholesteromelia and premature atherosclerosis. We crystallized human ABCG5/ABCG8 in lipid bilayers and solved an X-ray structure. ABCG5/ABCG8 is the first ABCG transporter structurally characterized at atomic resolution and presents a new transmembrane fold for the ABC transporter superfamily. It shows the asymmetric nucleotide-binding sites interacting with the transmembrane domain through a conserved polar network, where the coupling-connecting helices are structurally asymmetric. The structure reveals new features of sterol transport at the bilayer-transporter interface, allows us to propose a sterol transport model and provides a new framework to study active lipid transport and to model other ABC transporters. This presentation share slides that describes the background of the physiology, protein purification, structural determination and interpretation of human ABCG5/ABCG8.

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Doxorubicin (DOX) is a chemotherapeutic agent used for treatment of different cancers and its clinical usage is hindered by the oxidative injury-related cardiotoxicity. This work aims to declare if the harmful effects of DOX on heart can be alleviated with the use of Coenzyme Q10 (CoQ10) or L-carnitine. The study was performed on seventy two female Wistar albino rats divided into six groups, 12 animals each: Control group; DOX group (10mg/kg); CoQ10 group (200mg/kg); L-carnitine group (100mg/kg); DOX+CoQ10 group; DOX+L-carnitine group. CoQ10 and L-carnitine treatment orally started 5days before a single dose of 10mg/kg DOX that injected intraperitoneally (IP) then the treatment continued for 10days. At the end of the study, serum biochemical parameters of cardiac damage, oxidative stress indices, and histopathological changes were investigated. CoQ10 or L-carnitine showed a noticeable effects in improving cardiac functions evidenced reducing serum enzymes as serum interleukin-1 beta (IL-1 β), tumor necrosis factor alpha (TNF-α), leptin, lactate dehydrogenase (LDH), Cardiotrophin-1, Troponin-I and Troponin-T. Also, alleviate oxidative stress, decrease of cardiac Malondialdehyde (MDA), Nitric oxide (NO) and restoring cardiac reduced glutathione levels to normal levels. Both corrected the cardiac alterations histologically and ultrastructurally. With a visible improvements in α-SMA, vimentin and eNOS immunohistochemical markers. CoQ10 or L-carnitine supplementation improves the functional and structural integrity of the myocardium. Keywords: Cardiotoxicity; CoQ10 and L-carnitine; Dox; Vimentin; eNOS.

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The Bakerwal breed of goat in Kashmir valley is a good meat purpose breed of goat. That attains an appreciable body weight under a low input production system. As these goats are mainly reared by Gujjar and Bakarwal tribes of the J & K state, so they usually are fed with the weeds, herbs, shrubs and grasses of pastures that will otherwise go waste. These goats constitute the main livestock wealth. With the good productive and reproductive potential, it makes these animals an important animal protein source for developing countries like India. The myostatin gene (GDF8) is important in the physiology of stock animals because its product produces a direct effect on muscle development and consequently also on meat production. The myostatin sequence is known in several mammalian species and shows a high degree of amino acid sequence conservation, although several alterations in the intron and exon regions have been identified. The objective of our work is to characterize the myostatin coding regions using gene sequencing and polymerase chain reaction methods of Capra hircus (Bakerwal breed) and to compare them with the Ovis aries and other livestock species of animal, looking for variations in nucleotide and protein sequences. As mutations in the myostatin gene can inactivate its expression and result in a non-functional protein, which leads to increase in muscle growth in many species. In this way, we are able to identify 3 alterations on the presumed myostatin protein sequence as compared to non double-muscled ovine sequences.

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Tendances (19)

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Plus de Seth g s medical college and kem hospital mumbai

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