Objective: Discusses the distributive characters of the Creatine Kinase MM (CKMM) gene A/G Polymorphism in XinjiangUyghur, One hundred and fourtheen athletes and 441 general population of Uyghur were involved in the study.
Methods: Polymerase chain reaction-restriction fragment length polymorphism was used.
Results: (1) The CKMM gene A/G frequency in Uyghur general population was(AA, AG and GG) 0.497, 0.392 and 0.111, the result test by Hardy-Weinberg (H-W) equilibrium and x² = 2.72, P = 0.1, df = 2, indicated that the control group had representative. (2) AA, AG and GG genotype frequency of power-oriented athlete respectively was 0.442,0.302 and 0.256, frequency of GG genotype and G allele was higher than the control group, there were significant differences compared to thecontrol( P < 0.05, df = 2); (3) A/G genotype frequency of Endurance-oriented athletere spectively was 0.571, 0.400 and 0.029, there were nosignificant differences compared to the controls ( P > 0. 05, df = 2). (4) A/G genotype frequency of Uyghur soccer athletes respectively was0.472, 0.361 and 0.167, G allele was higher than the Endurance-oriented athlete and lower than the power-oriented athletes. and no significant differences compared to the controls( P > 0.05, df = 2).
Conclusion: The results indicate that the CKMM gene GG genotype and G alleleare represented in power-oriented athletes, but don't find A/G polymorphism correlation with endurance and the football sport performance.
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Turk J Med Sci
May 2024
Department of Biology, Molecular Biology Section, Faculty of Science and Art, Manisa Celal Bayar University, Manisa, Turkiye.
Background/aim: Although high muscle strength worsens the sense of force, it is unknown whether there is a relationship between this deterioration and the underlying molecular mechanisms. This study examined the relationship between decreased force sense (FS) acuity and strength-related gene expressions.
Materials And Methods: Maximal voluntary isometric contraction (MVIC) and FS (50% MVIC) tests were performed on the knee joints of twenty-two subjects.
Pol Merkur Lekarski
December 2023
DEPARTMENT OF PHARMACOLOGY & THERAPEUTICS, FACULTY OF MEDICINE, UNIVERSITY OF KUFA, KUFA, IRAQ.
Objective: Aim: The study aims to investigate the effect of solute carriers organic anions transporters 1B1 (SLCO1B1) gene polymorphisms rs4149056, rs2306283, rs55901008, and rs729559745 in a sample of patients with dyslipidemia, and relate it to atorvastatin response and associated myopathy.
Patients And Methods: Materials and Methods: A cross sectional enrolled 200 patients both males and females of Arabic race, Iraqi nationality aged between 30-65 years. The patients were divided into two groups: Group 1 (Atorvastatin responders and tolerant), Group 2 (Atorvastatin non responder and intolerant).
Genet Med
January 2024
RTI International, Research Triangle Park, Durham, NC.
Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, United States.
Methods: We performed screening for creatine kinase-MM (CK-MM), a biomarker of muscle damage, on residual routine newborn dried blood spots (DBS) from participating newborns.
Clin Biochem
August 2023
Division of Genetics, Wadsworth Center, New York State Department of Health, 120, New Scotland Ave., Albany, NY 12208, USA; Department of Biomedical Sciences, School of Public Health, State University of New York, 1 University Place, Rensselaer, NY 12144, USA. Electronic address:
Introduction: Newborn screening for Duchenne muscular dystrophy can be performed via a first-tier creatine kinase-MM measurement followed by reflex testing to second-tier molecular analysis of the DMD gene. In order to establish appropriate cut-offs for the creatine kinase-MM screen, factors that influence creatine kinase-MM in newborns were investigated.
Materials And Methods: Creatine kinase-MM data from a consented pilot study in New York State were collected over a two-year period and combined with de-identified validation data and analyzed.
Ann Clin Transl Neurol
August 2023
Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Objective: Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis.
Methods: At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD.
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