Detection the genetic variation of circadian Rhythm genes and its correlation with sleepiness disorders in kids
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DOI:
https://doi.org/10.5281/zenodo.15038410Keywords:
Circadian Rhythum Genes, Mental Disorders, Bmal1gene, Clock Gene, Pers Family GenesAbstract
Human health depends on sleep, which is still one of science's biggest mysteries. the circadian
system is regulated the timing, duration and depth of sleep, and the hemostat of sleep. The main cue for the
entrainment of circadian rhythms to the external environment is light, and the functions of SCN is a
pacemaker responsible for this coordination process. The aim of study was find the correlation between
sleepiness disorders and mutation in circadian rhythm genes. in this study we detection of the genetic
variation of the circadian rhythm genes (BMAL1, CLOCK, PER1, PER2 and PER3 gene ) by T-ARMS-PCR,
the Case of study was 60 kids between the age of (2-12) years, divide into two categories the first contain 40
kids with sleepiness disorders while the second contain 20 sample include healthy kids and it have been
considered as control. when we Detection of the genetic variation of the BMAL1 rs3789327 gene by T
ARMS-PCR we found 60% of study samples are have mutant genotype and 35% are hetero-genotype, and
when Detection of the genetic variation of the Clock rs6811520 gene by T-ARMS-PCR we found 92% of
study samples are have mutant genotype and 5% are hetero-genotype, and when Detection of the genetic
variation of the PER2 rs2304672 gene by T-ARMS-PCR we found 75% of study samples are have mutant
genotype and 20% are hetero-genotype, this indicate that three SNPs cause disturbance in circadian rhythm
and this showed strong correlation with sleepiness disorders in kids, while PER1 and PER3 genes was show
less correlation with disturbance in circadian rhythm because the percentage of mutant genotype for PER1
gene was 10% and 5% for hetero-genotype, and the mutant genotype for PER3 gene was 15% and 5% for
hetero-genotype in the sample study. and the Hardy Weinberg equilibrium indicate that the P value for all
genes studied was less than 0.5, this indicate the sample study is unstable and do not submit for the Hardy
Weinberg equilibrium and the impact was environmental.
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