Genetic testing

Bài viết trình bày đánh giá kết quả chuyển phôi sau thực hiện phương pháp phân tích di truyền không xâm lấn (Nonivasive Preimplantation Genetic Testing for Aneuploidy- NiPGT-A). Đối tượng và phương pháp: Nghiên cứu quan sát mô tả cắt ngang trên 44 cặp vợ chồng có chỉ định xét nghiệm di truyền tiền làm tổ để sàng lọc lệch bội PGT-A (Preimplantation Genetic Testing for Aneuploidy) và NiPGT-A tình nguyện tham gia nghiên cứu từ 2020- 2024 tại Bệnh viện Đa khoa Tâm Anh - Hà Nội, được nuôi cấy phôi theo quy trình nuôi cấy đơn giọt.

5p viciize 31-10-2024 3 1   Download

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.

4p viling 27-09-2024 2 2   Download

The Tajima’s test indicated that the analysed population in balancing selection with a D-value of 2.39. A phylogenetic tree based on 455 bp of hypervariable mtDloop sequence classified 17 Bang Troi chicken individuals into three clades A, B, and E, which are common groups of Vietnamese and Asia indigenous chickens. This result provides the first genetic information and maternal lineages of Bang Troi chickens and it can support for registration of local chicken breeds.

6p dianmotminh02 03-05-2024 5 3   Download

The aim of this project was to select highly sensitive and specific aptamer capable of detecting Fusarium graminearum (Fg) and F. pseudograminearum (Fp) species. The aptamer-based testing allows early detection of fungal infection in the field. Fungi are known to change their activity and may often undergo genetic changes. The classic "gene for gene" theory explains the relationship between host plant cultivars and fungal pathogenic races.

131p runthenight04 02-02-2023 3 1   Download

Bài viết Phân tích di truyền trước làm tổ bệnh Hemophilia B báo cáo một trường hợp gia đình thực hiện chẩn đoán di truyền trước làm tổ (Preimplantation genetic testing for monogenic disorders, PGT-M) bệnh Hemophilia B (HEMB) sàng lọc thành công phôi không mang bệnh.

7p vihermione 23-12-2022 30 3   Download

The thesis " A Study of Vibration Control of Truck Seat Suspension System" has designed a novel active truck seat suspension system for a further study of active vibration control. A 5-degree-of-freedom driver and seating suspension system model for active vibration control has been developed. A novel fast system parameter identification method from vibration measurement data has been proposed for the seat-occupant system based on the multi-objective Genetic Algorithm optimization (GA).

206p runordie3 06-07-2022 18 4   Download

Thalassemia là bệnh lý thiếu máu tán huyết di truyền đơn gen. Kỹ thuật chẩn đoán đột biến di truyền đơn gen giai đoạn phôi tiền làm tổ (Preimplantation Genetic Testing for Monogenic disorders - PGT-M) là kỹ thuật phân tích di truyền phôi nhằm giảm nguy cơ mắc bệnh di truyền trên thai nhi ở các cặp vợ chồng mang gen bệnh. Bài viết trình bày đánh giá hiệu quả có thai khi thực hiện chuyển phôi được thực hiện PGT-M để loại các phôi mang đột biến gen gây bệnh thalassemia.

8p viedison 13-04-2022 26 2   Download

Hiện tượng lệch bội nhiễm sắc thể ở phôi là một trong những nguyên nhân chính gây thất bại làm tổ, sẩy thai liên tiếp, làm giảm hiệu quả điều trị thụ tinh trong ống nghiệm. Xét nghiệm di truyền phôi tiền làm tổ phát hiện phôi lệch bội (Preimplantation Genetic Testing for Aneuploidy) giúp sàng lọc, phát hiện các phôi mang bất thường về số lượng nhiễm sắc thể bằng cách thu nhận 5-10 tế bào lá nuôi phôi (Trophectoderm).

5p vilouispasteur 10-03-2022 34 4   Download

Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region, we aim to describe the prevalence of BRCA1/BRCA2 PSVs in patients with OC across diferent countries in the Gulf region.

8p vielonmusk 21-01-2022 9 1   Download

Bài giảng Xét nghiệm di truyền trước làm tổ: Từ phòng xét nghiệm tới thực hành lâm sàng do Ths. Bs. Quách Thị Hoàng Oanh biên soạn trình bày các nội dung chính sau: Xét nghiệm di truyền trước làm tổ Preimplatation Genetic Testing; Phân loại PGT; Khảo sát bất thường NST: PGT-A và PGT-SR; Kỹ thuật PGT-M;... Mời các bạn cùng tham khảo để nắm nội dung chi tiết.

23p vimarkzuckerberg 04-11-2021 19 3   Download

The generation mean analysis involving six generations (P1, P2, F1, F2, B1 and B2) was carried out to study the nature and magnitude of gene effects for seventeen characters in okra. The study was conducted at Departmental Farm of Department of Agricultural Botany, College of Agriculture, VNMKV Parbhani during Kharif-17 season.

11p trinhthamhodang11 27-04-2021 18 2   Download

Với mong muốn giúp các bạn đạt kết quả cao trong kì thi, TaiLieu.VN đã sưu tầm và chọn lọc gửi đến các bạn IELTS Academic Reading Sample 156 - Population movements and genetics. Mời các bạn cùng tham khảo!

7p mucnang000 17-04-2021 10 2   Download

In the present study, the components of genetic variation were studied in AN (Arka Nidhi) and SN (Singh Nath) for quantitative characters. The estimates of both additive and dominance components were significant for all the characters except days to 50 per cent flowering, fruit diameter, number of branches per plant and pedicel length. Epistasis (i) and (j+l) type was significant in all the traits except except fruit diameter (cm).

9p kequaidan7 01-09-2020 16 3   Download

A database consisting of 23 tripeptides was used to study the quantitative relationships between electric surface potential descriptors and antioxidant activity QESARs. The important structural descriptors SaaNH_acnt, SsOH_acnt, SaaN, SaaN_acnt, SsssCH, SaaaC, SsNH3p, SdO, SdO_acnt were selected for constructing the linear models QESARs with genetic algorithm. The best 4-variable linear model QESARlinear including the structural descriptors SaaN, SdO, SdO_acnt and SsOH_acnt was constructed. The quality QESARlinear was exhibited in statistical values R2 fitness of 97.

7p nguathienthan1 20-11-2019 10 1   Download

Antizyme is a polyamine-induced cellular protein that binds to ornithine decarboxylase (ODC), and targets it to rapid ubiquitin-independent degradation by the 26S proteasome. However, the metabolic fate of antizyme is not clear. We have tested the stability of antizyme in mammalian cells. In contrast with previous studies demonstrating stability in vitro in a reticulocyte lysate-based degradation system, in cells antizyme is rapidly degraded and this degradation is inhibited by specific proteasome inhibitors. ...

7p research12 01-06-2013 40 3   Download

Fourier transform infrared spectroscopy was performed on human leukemic daunorubicin-sensitiveK562 cells and their multiresistant counterpart derived by selection. Statistical analysis, including variable reduction and linear discrimi-nant analysis was performed on sensitive and multiresistant cells spectra in order to establish a diagnostic tool for multiresistant pattern. For each of the twomethods of data reduction tested [genetic algorithm or principal component analysis (PCA)] discriminationbetween the twocell lineswas found to be possible....

6p research12 23-04-2013 41 2   Download

To test the role of poly(ADP-ribose) polymerase on the telomerase activity, we determined the telomerase activity in leukemic cells K562 treated with benzamide and 4-amino 1,8 naphthalimide (NAP), the inhibitors of PARP. We observed that both the agents inhibited telomerase activity in a dose-dependent manner. The doses of benzamide and NAP that inhibited telo-merase activity to 50% of untreated control cells were 10.7 ± 0.6 mmand 200 ± 7lm, respectively.

12p fptmusic 11-04-2013 47 2   Download

Surfactant-like membranes containing the 21-residue peptide KLLLL-KLLLLKLLLLKLLLLK (KL4 ), have been clinically tested as a therapeu-tic agent for respiratory distress syndrome in premature infants. The aims of this study were to investigate the interactions between the KL4 peptide and lipid bilayers, and the role of both the lipid composition and KL4 structure on the surface adsorption activity of KL4 -containing membranes.

13p inspiron33 26-03-2013 40 4   Download

Eph receptor tyrosine kinases regulate many important biological pro-cesses. In the present study, we explored the substrate specificity of the EphA4 receptor tyrosine kinase using peptide arrays. We define a consen-sus substrate motif for EphA4 and go on to identify and test a number of potential EphA4 substrates and map their putative site(s) of phosphoryla-tion.

11p media19 06-03-2013 47 4   Download

Grape (Vitis vinifera) and pine (Pinus pinaster) bark extracts are widely used as nutritional supplements. Procyanidin-rich fractions from grape and pine bark extract showing different mean degrees of polymerization, per-centage of galloylation (percentage of gallate esters) and reactive oxygen species-scavenging capacity were tested on HT29 human colon cancer cells.

10p media19 04-03-2013 39 3   Download