Title |
MTHFR C677T GENE MUTATION ASSOCIATED WITH SEVERE RISK FOR MENTAL RETARDATION IN CHILDREN |
| Genetics Vol:3 Iss:2 (2011-12-15) : 47-49 |
Authors |
AJIT KUMAR SAXENA |
Published on |
15 Dec 2011 Pages : 47-49 Article Id : BIA0000205 Views : 1279 Downloads : 1351 |
DOI | http://dx.doi.org/10.9735/0975-2862.3.2.47-49 |
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MTHFR gene polymorphism regulate folate metabolism, required for normal development of central nervous
system and any error in metabolism either due to hereditary or sporadic gene mutation in the family lead to the development
of mental retardation in heterozygous condition. In the present study the five families having severe congenital mental
retardation was evaluated for C677T genotype variations i.e. CC, CT & TT in probands, mother & father using PCR-RFLP
analysis. Highest frequency (60%) was observed in heterozygous condition in the mother of proband. Statistical analysis
showing significant difference (p=0.024) were observed in the father of the proband. Interestingly, the insertion of 68bp of
CβS gene mutation was also observed in father of one family suggesting paternal or maternal factors influencing for severe
mental retardation in children of consanguineous families as an independent risk factor. However, the high degree of genetic
heterogeneity is quite striking because of severe mutation in two families. The pedigree analysis showing that the severity
of disease transmission probably due to the penetrance of gene and their mode of inheritance is autosomal recessive in
nature.
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Title |
EVOLUTION WITHOUT GENES |
| Genetics Vol:3 Iss:2 (2011-12-15) : 50-61 |
Authors |
ABYT IBRAIMOV |
Published on |
15 Dec 2011 Pages : 50-61 Article Id : BIA0000206 Views : 1187 Downloads : 1379 |
DOI | http://dx.doi.org/10.9735/0975-2862.3.2.50-61 |
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Nowadays genes are claimed to explain almost everything that is somehow or another connected with
manifestations of the biological life on the Earth, including evolution. It is now clear, however, that major incongruities exist
and that there is only a weak relationship between biological complexity and the number of protein coding genes. The
genome can be divided into two main sections, the coding (genes) and non coding portions. Non coding DNAs have been
considered as non-functional DNA by many authors. And to determine which of them is the most important in evolution
based on the input of genes and non coding DNAs into the origin of the basic forms of life and its diversity. Information about
non coding DNAs as the main evolving component of the genome is presented. It is supposed that evolution has not
stopped on DNA, which is transcribed into RNA which in turn is translated into proteins.
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Title |
ROLE OF CELL FREE FETAL DNA IN MATERNAL BLOOD - A PROSPECTIVE ROLE OF CÎ’S AND MTHFR GENE AS ANTENATAL GENETIC MARKER IN PREECLAMPSIA PATIENTS |
| Genetics Vol:3 Iss:2 (2011-12-15) : 62-65 |
Authors |
SAXENA A.K., GARIMA GUPTA, JYOTI GUPTA, SULEKHA PANDEY, PANDEY L.K. |
Published on |
15 Dec 2011 Pages : 62-65 Article Id : BIA0000207 Views : 1096 Downloads : 1363 |
DOI | http://dx.doi.org/10.9735/0975-2862.3.2.62-65 |
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The pathophysiology of cell - free fetal DNA in maternal blood of pre eclampsia patients remain inexplicable
because of two main reasons- first presence of very minute quantity of cell free fetal DNA in plasma required
sophisticated equipments & techniques for its identification and second is the variation in gestational age of the patients.
Because of lacking molecular biology and associated “risk factors†involvement of CβS and MTHFR gene mutation is remain
unidentified in such patients. Hence, the curiosity has been developing to understand the role of these genes in such cases
to explore etiology of increasing risk in patients. In the present study, n=151 case were selected and 80% cases showed
Sry positive (Y-chromosome specific sequence) used as marker for confirmation of cell free fetal DNA in maternal blood.
Genetic study reveals, >20% case showing mutation of CβS gene and MTHFR C677T gene polymorphism showing lack of
transition between C/T alleles. Statistical analysis showing significant difference due to hence, these findings could be useful
to assess as prenatal diagnosis marker in genetics lead to altered single gene folic acid metabolism (homocysteine) and
may increased as an independent “risk factor†in pre eclampsia patients.
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Title |
DETECTION OF DNA DAMAGE IN OBESE CARDIOVASCULAR DISEASE PATIENTS AND COMPARISON BETWEEN GENDERS: A CASE-CONTROL STUDY |
| Genetics Vol:3 Iss:2 (2011-12-15) : 66-71 |
Authors |
GANDHI G., KAUR J., MAHAJAN N. |
Published on |
15 Dec 2011 Pages : 66-71 Article Id : BIA0000208 Views : 1124 Downloads : 1459 |
DOI | http://dx.doi.org/10.9735/0975-2862.3.2.66-71 |
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Background- Obesity and cardiovascular disease (CVD) with the increased stress/ inflammation may cause DNA damage posing
risk for malignancy hence assessment of DNA damage gains importance as a pre-cancerous biomarker.
Methods-The alkaline Single Cell Gel Electrophoresis assay was carried out in peripheral blood leukocytes of obese-CVD patients
(n=28; 14 males and 14 females) and matched controls (n=13; 7 males and 6 females). Multiple regression and analysis of variance
were performed for effect of confounding/specific factors on DNA damage and the Student’s t-lest to compare differential values for
factors associated with obesity-CVD and DNA damage.
Results-In patients, genomic damage was significantly higher (p<0.05): damage frequency (59.21% in males, 60.14% in females),
mean DNA migration length (37.53±4.74 μm, 19.16±2.60μm, respectively) in comparison to control data with significantly (p<0.01)
increased damage in male patients. The attributes of obese-CVD patients and controls matched except for Body Mass Index (BMI),
weight, waist circumference (WC) and waist hip ratio (WHR). Multivariate analysis of variance and multiple regression analysis
revealed association of genetic damage with waist and hip circumferences in male patients. The t-test revealed that age, BMI,
WHR, WC, cardiovascular disease sub-sets and drug usage had differential significance for genetic damage in female patients.
Male patients with arrhythmia had significantly higher DNA damage as those on atenolol-rampril-furosemide therapy.
Conclusion- The significantly increased DNA damage in obese-CVD patients may be from the nature of CVD, treatment duration,
drug combinations and adiposity and gains importance as it imples a higher risk for age -related diseases and cancer.
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