Single nucleotide variants

This study aimed to assess the association of single nucleotide polymorphism (SNP) TEX15 rs323347 with male infertile individuals in a Vietnamese cohort and further analyze the haplotypes of TEX15 rs323346 and TEX15 rs323347. A total of 401 unrelated males, including 202 male infertility patients and 199 healthy controls were genotyped for TEX15 rs323347 using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP).

7p dianmotminh02 03-05-2024 8 2   Download

Alpinia vietnamica H.Ð. Tran, Luu & Skornick was identified as a new species in 2019, which is widely distributed in Thua Thien Hue, Quang Nam, and Kon Tum provinces, Vietnam. The current study wishes to report phytochemical investigation, and the biological activities (cytotoxic, antioxidative, and α-glucosidase inhibitory) of isolated compounds.

5p dianmotminh02 03-05-2024 12 2   Download

The methanol extracts as well as some compounds from this plant exhibited anti-inflammatory, antimicrobial activity, antioxidant, hepatoprotective and anti-cancer effect, and antiosteoporotic. On going to search for bioactive components from the Vietnamese plant, this paper reported the isolation of seven phenolic compounds including one new from the aerial parts of A. ilicifolius. The cytotoxic activity of the isolates against two cancer cell lines (HepG2 and SK-LU1) were also screened and reported herein.

5p dianmotminh02 03-05-2024 8 2   Download

Risk prediction models incorporating single nucleotide polymorphisms (SNPs) could lead to individualized prevention of colorectal cancer (CRC). However, the added value of incorporating SNPs into models with only traditional risk factors is still not clear. Hence, our primary aim was to summarize literature on risk prediction models including genetic variants for CRC, while our secondary aim was to evaluate the improvement of discriminatory accuracy when adding SNPs to a prediction model with only traditional risk factors.

21p vielonmusk 21-01-2022 14 1   Download

The results show that in the normal group, the data of z score of weight for age was the highest in CC genotype group and was the lowest in TT genotype group (0.11 and -0.38, respectively, p=0.023). In the obese group, the waist hip ratio was the lowest in TT genotype group and the highest one was in CC genotype group (0.93 and 0.97 respectively, p=0.031). The study findings indicate that variant rs17782313 of MC4R is likely to have an impact on the changing of weight and central obesity in the Vietnamese children.

7p cathydoll4 21-02-2019 13 0   Download

In disease-associated genes, understanding the functional significance of deep intronic nucleotide variants represents a difficult challenge. We previ-ously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is ‘c.293-279 AG’ mutation [Raponi M, Upadhyaya M & Baralle D (2006)Hum Mutat27, 294–295].

8p vinaphone15 28-02-2013 31 3   Download

This study characterized the human apolipoprotein H [APOH; b2-glycopro-tein I (b2GPI)] promoter and its variants byin vitro functional experiments and investigated their relationship with human plasmab2GPI levels. We examined the individual effects of 12 APOHpromoter single nucleotide polymorphisms in the 5¢ flanking region ofAPOH(1.4 kb) on luciferase activity in COS-1 cells and HepG2 cells and their impact on plasma...

13p mobifone23 18-01-2013 48 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice

6p panasonic02 15-12-2011 36 3   Download

Principles of Genetic Variation and Human Traits (See also Chaps. 62 and 64) Variants in the human genome resulting in variation in level of expression or function of molecules important for pharmacokinetics and pharmacodynamics are increasingly recognized. These may be mutations (very rare variants, often associated with disease) or polymorphisms, variants that are much more common in a population. Variants may occur at a single nucleotide [known as single nucleotide polymorphism (SNP)] or involve insertion or deletion of one or more nucleotides.

6p tubreakdance 26-11-2010 115 6   Download