刊·见 | SCI期刊Annals of Human Biology，引领生命科学研究新纪元

Background

Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them.

Aim

To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia.

Subjects and methods

Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included. Data were obtained from: (1) haematological analyses; (2) biochemical tests: dHPLC was used to determine haemoglobin (Hb); and (3) DNA sequencing data through five SNPs.

Results

101 samples were identified by rs334 through Sanger’s Sequencing, structural haemoglobinopathies HbAS (34.65%), HbSS (2.97%) and HbAC (1.98%) were found. When contrasting the Hb identification results between SNP rs334 Vs. dHPLC/Isoelectric Focusing (IEF), a coincidence was found in 39/43 samples analysed, therefore, when comparing these techniques, a significant correlation was found (Pearson’s correlation coefficient r = 0.998). 26 samples previously analysed by rs334 were classified into classical haplotypes CAR (50.0%), BEN (30.76%), CAM (7.69%), SEN (3.84%), and ATP-I (7.69%).

Conclusions

SCD characterisation and SNPs-based classification through Sanger’s DNA sequencing have not been performed before in Colombia. The results of this work will make it possible to expand the data or records of carriers and those affected, which will benefit patients and their families.

Background

Biological maturity and relative age player selection biases are well documented in youth sports. However, there has been limited examination of the relationship between these biases.

Aim

This study investigated the presence, strength, and independence of relative age and biological maturity selection biases in Gaelic football.

Subjects and methods

A total of 247 male players from U14 to U16, from two talent academies were assessed for relative age (decimal age (DA)) and biological maturity (discrepancy between biological and chronological age (BA-CA)).

Results

Relative age effects (RAE) were observed in the U14 (DA = 0.62, d = 0.40) and U15 squads (DA = 0.57. d = 0.26) only. A bias towards advanced maturity status was present at U14 (BA-CA = 0.60, d = 0.83), U15 (BA-CA = 0.78, d = 0.89), and U16 (BA-CA, d = 1.01). There was a trivial (U14, r(83) = −0.210; U15, r(88) = 0.060) and low (U16, r(76) = 0.352) correlation between relative age and maturity status.

Conclusion

Substantial maturity selection biases and, to a lesser degree, relative age biases are evident in youth Gaelic football. Critically, these biases are independent constructs. Coaches and policy makers should be educated on the distinct influences of relative age and maturation, and on strategies to address these biases.