Gene mutations

Hemoglobinopathy is the most common monogenic disease worldwide. The aims of the current study were: (1) to investigate some hematological characteristics of patients with hemoglobinopathies; and (2) to detect the mutation of α-globin and β-globin genes, as well as the association between genotype and degree of anemia.

8p viharuno 03-01-2025 0 0   Download

Các loại đột biến đơn gene (single - gene mutation) .Đột biến gene (gene mutation) xảy ra khi có sự thay đổi trong trình tự của các nucleotide trên DNA. Chúng có thể xảy ra ở các tế bào dòng sinh dục (germline cell) hoặc các tế bào sinh dưỡng (somatic cell).

6p butmauvang 29-08-2013 80 4   Download

Các yếu tố làm ảnh hưởng đến kiểu di truyền 1. Đột biến mới Nếu một đứa trẻ được sinh ra với một bệnh di truyền và trong gia đình của trẻ chưa hề có tiền sử về bệnh này thì có thể trẻ này là kết quả của một đột biến mới (new mutation), điều này đặc biệt đúng đối với bệnh di truyền do gene trội trên NST thường.

6p butmauvang 29-08-2013 102 6   Download

Polymerase Chain Reaction is widely held as one of the most important inventions of the 20th century in molecular biology. Small amounts of the genetic material can now be amplified to be able to a identify, manipulate DNA, detect infectious organisms, including the viruses that cause AIDS, hepatitis, tuberculosis, detect genetic variations, including mutations, in human genes and numerous other tasks.

62p zingzing09 24-04-2013 55 6   Download

The incidence of hypervirulent epidemic Clostridium difficile has increased around the world and now in Australia. Assays that are capable of rapidly identifying these strains would enable earlier diagnosis and timely infection control response. The aims of the first part of the study were to validate and develop a molecular technique for the rapid diagnosis of toxigenic C.

134p runthenight07 01-03-2023 10 3   Download

The research project deals with two different types of data for two separate analysis. The first analysis deals with normalised RNA-seq breast cancer data where machine learning techniques are used to classify and identify the biomarker of cancer. Second analysis deals with raw DNA methylated leukemia samples to determine the mutations.

102p runthenight04 02-02-2023 8 4   Download

Research objective: Establish the genetic variants database of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Identification of genotype and allele frequencies of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Perform in silico functional analysis of novel variants.

27p extraenglish 24-05-2021 27 4   Download

Establish the genetic variants database of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Identification of genotype and allele frequencies of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Perform in silico functional analysis of novel variants.

27p capheviahe27 23-02-2021 5 3   Download

Analysis of mutation and protein expression of EGFR in patients with lung adenocarcinoma; investigation the hypermethylation frequency of EGFR, BRCA1, MGMT, MLH1, RASSF1A and correlation of the methylation between these genes with mutations and protein expression of EGFR.

27p capheviahe26 25-01-2021 19 4   Download

Assessed the level of mRNA expression of CIZ1b, VEGF, EGFR mutations and the rate of Merkel cell infection in patients with non-small cell lung cancer. Assessed the level of mRNA expression of CIZ1b, VEGF, EGFR mutations and the rate of Merkel cell infection in patients with non-small cell lung cancer.

32p trinhthamhodang7 31-08-2020 35 3   Download

Analysis of mutation and protein expression of EGFR in patients with lung adenocarcinoma. Investigation the hypermethylation frequency of EGFR, BRCA1, MGMT, MLH1, RASSF1A and correlation of the methylation between these genes with mutations and protein expression of EGFR.

27p trinhthamhodang7 31-08-2020 36 2   Download

The development of fruits without fertilization is known as parthenocarpy. Parthenocarpy improves the fruit quality, processing attributes, production and productivity of vegetable crops like tomato, cucumber, watermelon etc. Absence of seeds can enhances the shelf life of the fruits, allowing a better conservation, fruit set in adverse climatic conditions, early and offseason production of vegetable crops. Therefore, it is important to ensure yield stability regardless of environmental conditions.

20p gaocaolon5 14-06-2020 17 3   Download

Objectives of thesic: Isolation, point mutation of P5CS gene conferring drought tolerance and transformion into soybean varieties of Vietnam: Comparing the DNA sequence of P5CS isolated from different soybean varieties and producing mutant P5CS without feedback inhibition by proline.

21p nguyenthiminh32 12-07-2014 88 4   Download

Institute for Organic Chemistry, University of Karlsruhe, Germany; 2Institute for Organic Chemistry, Budapest University of Technology and Economics, Hungary Elucidation of the 3D structure of histidine ammonia-lyase (HAL, EC 4.3.1.3) from Pseudomonas putida by X-ray crystallography revealed that the electrophilic prosthetic group at the active site is 3,5-dihydro-5-methylidene-4H-i´ midazol-4-one (MIO) [Schwede, T.F., Retey, J., Schulz, G.E. (1999) Biochemistry, 38, 5355 –5361].

9p system191 01-06-2013 50 3   Download

Tyrosyl-DNA phosphodiesterase (TDP) cleaves the phosphodiester bond linking the active site tyrosine residue of topoisomerase I with the 3¢ terminus of DNA in topoisomerase I–DNA complexes which accumulate during treatment of cancer with camptothecin. In yeast, TDP mutation confers a 1000-fold hypersensitivity to camptothecin in the presence of an additional mutation of RAD9 gene [Pouliot, J.J., Yao, K.C., Robertson, C.A. & Nash, H.A. (1999) Science 286, 552–555].

8p research12 01-06-2013 38 2   Download

We previously reported that GTS1 is involved in regulating ultradian oscillations of the glycolytic pathway induced by cyanide in cell suspensions as well as oscillations of energy metabolism in aerobic continuous cultures. Here, we screened a yeast cDNA library for proteins that bind to Gts1p using the yeast two-hybrid system and cloned multiple TDH cDNAs encoding the glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH).

10p research12 01-06-2013 40 3   Download

The physiological role of sulfoquinovosyl diacylglycerol (SQDG) in photosynthesis was investigated with a SQDG defective mutant (hf-2) of Chlamydomonas reinhardtii that did not have any detectable amount of SQDG. The mutant showed a lower rate of photosystem II (PSII) activity by  40% and also a lower growth rate than those of the wildtype. Results of genetical analysis of hf-2 strongly suggest that the SQDG defect and the lowered PSII activity are due to a single gene mutation.

6p research12 01-06-2013 37 6   Download

Integrin a2b1 is the major receptor for collagens in human tissues, being involved in cell adhesion and the control of collagen and collagenase gene expression. The collagen binding site of a2b1 has been localized to the a2 von Willebrand Factor type A (VWFA) domain (A-domain or I-domain) and the residues responsible for the interaction with collagen have been mapped. We report a study of a2 VWFA domain in which residue E318, which lies outside the collagen binding site, is mutated to tryptophan, showing that this is a gain-of-function mutation. ...

9p research12 01-06-2013 36 5   Download

The Phycomyces blakesleeanus wild-type is yellow, because it accumulates b-carotene as the main carotenoid. A new carotenoid mutant of this fungus (A486) was isolated, after treatment with ethyl methane sulfonate (EMS), showing a whitish coloration. It accumulates large amounts of phytoene, small quantities of phyto¯uene, f-carotene and neurosporene, in decreasing amounts, and traces of b-carotene. This phenotype indicates that it carries a leaky mutation a€ecting the enzyme phytoene dehydrogenase (EC 1.3.-.-), which is speci®ed by the gene carB....

7p research12 01-06-2013 46 5   Download

Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked Emery–Drei-fuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening cardiomyopathy. We have previously reported that emerin is phosphorylated in a cell cycle-dependent manner in human lymphoblastoid cell lines [Ellis et al. (1998) Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the EDMD phenotype.J. Cell Sci. 111, 781–792]. ...

14p research12 29-04-2013 41 4   Download