Two Sequences Variations of the E768D Mutation Found in Familial Medullary Thyroid Carcinomas

Medullary thyroid cancer or MTC is present in sporadic form (75% of cases) and in familial form (25% of cases), in this latter situation, the MTC is a part of Multiple Endocrine Neoplasia type 2 (MEN 2). The MEN2 is divided into MEN2A, MEN2B and FMTC or isolated familial MTC. The MEN2 are rare hereditary disease, transmitted as an autosomal dominant mode, linked to mutations of the RET gene. The discovery of a mutation in the RET proto-oncogene by molecular biology techniques in a index case of MTC confirms the diagnosis of familial and allows the genetic testing of healthy clinically related index case: those who carry the genetic mutation, will be offered prophylactic thyroidectomy before any biological or clinical manifestation. The genetic analysis of the RET gene was performed by PCR / sequencing. The E768D mutation was found in the exon 13 of the RET gene in 2 differences sequences forms (GAG/GAC et GAG/GAT). This mutation, already described, found in the FMTC.

Heritability and Genetic Advance as Genetic Indicators for Improvement in Two Cotton Crosses

The primary breeding goal for the Egyptian cotton breeding program is how to genetically improve both yield and fibre quality traits, while most of these agronomically traits are biometric traits. The objective of the present study is to evaluate variability and estimate frequency of transgressive segregants in order to isolate early superior individual plants which exceeding the better parent for some yield and fiber quality traits in two intraspecific cotton crosses in early transgressive segregating generation (F2 ). The F1 was highly significant superior than the better parent (Giza 97 and Giza 94) of the two crosses for all the studied traits except boll weight and lint %. Most of the studied traits in F2 generation showed high values of broad sense heritability coupled with low GAM % indicated that these traits controlled by non-additive gene action. All the studied traits had positive skewness sign except for lint %. Presley index and uniformity index for the two cotton crosses and upper half mean for cross II showed negative skewness. The negative skewness indicated that the population had more plants frequency with higher mean values than population mean and controlled by dominancy alleles. While, the traits that had positive skewness are controlled by additive gene action. The two cotton crosses showed transgressive segregants for all the studied traits. Cross I has higher transgressive index for yield traits than cross II, while cross II has the same trend for fiber quality traits than cross I. These results indicated that the both parents of the two cotton crosses had different alleles and genes governing the respective studied traits, which will help cotton breeder to combine beneficial alleles into a single genotype by rigorous selection process. This strategy could be used to improve many economic biometric traits by using better and stringent selection procedure to enhance Egyptian cotton productivity which is major concern in Egypt. The breeder can use transgressive segregation as an indicator of genetic variability to select the most superior plants.

Explanation of Frequency Distinguishing in Human Ear (Using Computer Model)

The inspiration for this model ware possibilities of the human ear to distinguish the frequency of sounds and a diffraction grating. Detection takes place after max. 15 length of the wave (arbitrary choice). The range of frequencies to detect for tests – 800-3200 Hz: detection every 5 Hz in the range 800-1600 Hz and 10 Hz in the range 1600-3200 Hz (arbitrary choice). It can explain the residual hearing effect (missing tone f is heard when harmonic tones 2f, 3f and 4f are played). The algorithm can be used as an alternative for FFT. Model uses only memory for delay line end for results, and adding operation, so it should be fast and cheep, and can work on-line in real-time. Testing program was written in Perl.

Systemic Sarcoidosis: Sociodemographic and Genetic Characteristics in a Tunisian Population

Background: Sarcoidosis is a multi-systemic granulomatosis of unknown cause, characterized by a clinical polymorphism. It results from interplay of environmental and genetic factors. Objective: The aim of our study was to describe sociodemographic and genetic characteristics in Tunisian patients with sarcoidosis. Methods: We conducted a retrospective study of patients with sarcoidosis followed in the internal medicine and neurology departments at the Military Hospital of Tunis. We collected epidemiological characteristics. Genetic study concerned only patients who accepted to participate. DNA extraction was performed from whole blood. HLA class II typing and gene mutation testing of the ACE gene were also performed. Results: Our study concerned 50 patients. The mediastino-pulmonary involvement was the most frequent (72.3%), followed by neurological involvement (58.5%), cutaneous involvement (50.8%) and ophthalmological involvement (40%). Genetic analysis showed a high frequency of the HLA DRB1 * 1501 allele (38%), DD genotype (30%) and D allele (54%) of the ACE gene. Treatment with corticosteroids was most often used 73.85%. The evolution was favorable in 13 cases (26.15%), and stable in 63% of cases. Conclusion: sociodemographic and genetic characteristic are variable from one ethnic to another. Advances in genotyping and statistical analysis are helping to elucidate the genetics of sarcoidosis.

Pedigree online: A New Web Server for Two-Way Interactive Pedigree Drawing

Pedigree drawing is of special importance for genetic counseling and research on documenting families with inherited disease. Current pedigree-drawing tools fall into two types: those build pedigree diagrams from input family data, and those provide a graphical interface to draw pedigree directly. Here we merge the two types of programs into one, and release a brand new pedigree-drawing web server, PedigreeOnline. Through introducing a novel pedigree-like-layout (PLL) family data format and taking advantage of HTML5 canvas element in development, this program is able to build two-way interactive connections between family data and graphical interface. Users can work on and switch easily between the graphical interface and the family data window. Currently this web server is compatible with Linkage data format and comma-separated value (CSV) data format. These features make PedigreeOnline a pedigree-drawing tool with outstanding user-friendliness and flexibility. PedigreeOnline is freely accessible for everyone at: http://www.ig.zju.edu.cn/PedigreeOnline/

Unknown Mutation Detection via Restriction Hybridization Method Instead of Using Next Generation Sequencing Method

In biology mutation is a change in the nucleotide sequences of the DNA of an organism mainly there are three types of mutation: point mutation, deletion and insertions. Once the mutation has been defined allele specific oligonucleotide hybridization, amplification, heteroduplex formation method referred to as a diagnostic method some advance technique like CRISPR cas9 system is using for selected mutagenesis. Using restriction method system we can detect a mutation. Let’s say you have a DNA sample with fluorescent labelled from patient and you want to make sure that gene you are interested is in healthy gene. We can design different short fragment sequences to scan through DNA or find specific gene or mutation. The sequences scan the DNA if the sequences does not find targeted gene it does not bind to it its means that no fluorescence color appears under UV-light each different short fragment sequences is label with different colors. If the different short fragments sequence does not bind to the DNA or specific gene or area this means that there will be no color appear under UV light this part or gene will be separated from the DNA by using Restriction enzyme to do a Sanger sequencing gel electrophoresis. Result of the Sanger sequencing will provide the information about sequence of unknown part or gene of the DNA this method is easier and cost economic method instead of Next generation sequencing method.

A Survey of the Combinatorial Paraphernalia in Protein Synthesis

Statement of the Problem: The combinatorial paraphernalia in protein synthesis to be surveyed are multifarious, embracing, phenomena, processes, activities and materials, all characterized by plurality and dissimilarity. The materials usable are phenomenal and must be a set of discrete plural and dissimilar objects, e.g. the RNA four bases of Adenine, Uracil, Guanine, Cytosine (A,U,G,C) for the activity of permutation for building genetic code. Sequences for protein type sequence composition, proliferation and diversification as inherent in protein synthesis. Methodology and Theoretical Orientation: We are in for combinatorics which is the scientific study of the phenomenon of input/output productivity exhibited by a duality of numeral entities as in permutation of specified set (n) of dissimilar discrete plural. Things and selection (r) of them. The Dalina apparatus of Input/Output Multiplicative Replication system equipped with Square Kinematics View Mixing Technique sourced from inchoate Numeration Science literature being developed by this author is in use for the computation of 4 from 4 permutations of RNA four bases, A,U,G,C constituting the 24 quadruplet genetic code as the workforce in protein synthesis. Findings: The combinatorial paraphernalia in protein synthesis identified and surveyed comprise 14 characteristics, 3 materials and 11 processes/operatives. Conclusion and Significance: The relevance of the several identified and surveyed combinatorial paraphernalia in protein synthesis has been demonstrated by the test of agreeability with the working of the Dalina apparatus of Input/ Output Multiplicative Replication Combinatorial System using the Square Kinematics View Mixing technique for the computation of permutations of RNA four bases A,U,G,C making up the 24 quadruplet genetic code as the workforce in protein synthesis for the substance of all plants and animals throughout CREATION.

Comparative Analysis of the Influence of Extracellular Matrix Biomimetics on the Viability and Insulin-Producing Function of Isolated Pancreatic Islets

The creation of a pancreas tissue-engineered construct based on isolated pancreatic islets is hindered by problems associated with maintaining their viability and insulin-producing function. Both biopolymer and tissue-specific scaffolds can contribute to the maintenance of the structure and function of pancreatic islets in vitro and in vivo. A comparative morphofunctional analysis in vitro of isolated pancreatic islets cultured with a biopolymer collagen-containing scaffold and a tissue-specific scaffold obtained as a result of pancreatic decellularization was performed. The results showed that the use of the scaffolds contributes not only to the maintenance of the cultured islets viability, but also to the prolongation of their insulin-producing functions, compared to the islets monoculture in vitro. A significant increase was found in basal and stimulated (under glucose loading) insulin secreted by the islets cultured with the scaffolds. At the same time, the advantage of using a tissue-specific scaffold in comparison with a biopolymer collagen-containing scaffold was shown. We think that these studies will become a platform for creating a human pancreas tissue-engineered design for the treatment of type 1 diabetes.