scholarly journals Association of Genetic Variation in Calmodulin and Left Ventricular Mass in Full-Term Newborns

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Iwona Gorący ◽  
Jarosław Gorący ◽  
Karolina Skonieczna-Żydecka ◽  
Mariusz Kaczmarczyk ◽  
Grażyna Dawid ◽  
...  
Keyword(s):  
Left Ventricular Mass ◽  
Fragment Length Polymorphism ◽  
Left Ventricular ◽  
Two Dimensional ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Ventricular Mass ◽  
Term Newborns ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Calmodulin II (CALM2) gene polymorphism might be responsible for the variation in the left ventricular mass amongst healthy individuals. The aim was to evaluate the correlation between left ventricular mass (LVM) and g.474955027G>A (rs7565161) polymorphism adjacent to theCALM2gene. Healthy Polish newborns (n= 206) were recruited. Two-dimensional M-mode echocardiography was used to assess LVM. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing analyses. The carriers of the G allele of theCALM2polymorphism had significantly higher left ventricular mass/weight (LVM/BW) values, when compared with newborns homozygous for the A allele (3.1 g/m2versus 2.5 g/m2,Padjusted= 0.036). The AG genotype ofCALM2was associated with the highest values of LVM/BW, exhibiting a pattern of overdominance (2.9 g/kg versus 3.1 g/kg versus 2.5 g/kg,Padjusted= 0.037). The results of this study suggest that G>ACALM2polymorphism may account for subtle variation in LVM at birth.

scholarly journals Identification of Mediterranean mutation in the G6PD gene on molecular level in Iraqi population

2009 ◽  
Vol 3 (2) ◽  
pp. 90-99
Author(s):  
Rana A. Al-Temmemy ◽  
Essam F. Al-Jumaily
Keyword(s):  
G6pd Deficiency ◽  
Deoxyribonucleic Acid ◽  
Fragment Length Polymorphism ◽  
Molecular Level ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
G6pd Gene ◽  
Polymerase Chain ◽  
Restriction Fragment Length ◽  
Apparently Healthy

The study involved extraction of Deoxyribonucleic acid (DNA) from 71 samples of random G6PD patients and 85 samples of apparently healthy individuals from different Iraqi populations respectively, which was then amplified by polymerase chain reaction (PCR) and later subjected to digestion by restriction enzyme to create restriction fragment length polymorphism (RFLP) to enable the detection of mutation that caused G6PD deficiency namely Mediterranean (Med). The results of the current study showed that Iraqies were affected by G6PD deficiency in a percentage of 7.2% and showed that the majority of affected cases were caused by Med mutation (95.8%). It could be concluded that Med mutation causes a serious impact on pediatric health and its the most prevalent cause of G6PD deficiency.

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