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RISS 인기검색어
- 검색키워드
- 저자 : Balraj Mittal (검색결과 4 건)
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Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study
( Rajan Singh ),( Uday C Ghoshal ),( Asha Misra ),( Balraj Mittal ) 대한소화기기능성질환·운동학회 2015 Journal of Neurogastroenterology and Motility (JNM Vol.21 No.3
Background/Aims: Achalasia is known to result from degeneration of inhibitory neurons, which are mostly nitrinergic. Characteristic features of achalasia include incomplete lower esophageal sphincter (LES) relaxation and esophageal aperistalsis. Nitric oxide (NO), produced by NO synthase (NOS), plays an important role in peristalsis and LES relaxation. Therefore, we evaluated genetic polymorphisms of NOS gene isoforms (endothelial NOS [eNOS], inducible NOS [iNOS], and neuronal NOS [nNOS]) in patients with achalasia and healthy subjects (HS). Methods: Consecutive patients with achalasia (diagnosed using esophageal manometry) and HS were genotyped for 27-base pair (bp) eNOS variable number of tandem repeats (VNTR), iNOS22G/A (rs1060826), nNOS C/T (rs2682826) polymorphisms by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP), respectively. Results: Among 183 patients (118 [64.5%] male, age 39.5 ± 13.0 years) with achalasia and 366 HS (254 [69.4%] male, age 40.8 ± 11.0 years), eNOS4a4a genotype of 27-bp VNTR was more common among achalasia than HS (20 [10.9%] vs 13 [3.6%]; P < 0.001; OR, 3.72; 95% CI, 1.8-7.7). Patients with achalasia had iNOS22GA genotypes more often than HS (95 [51.9%] vs 93 [25.4%]; P < 0.001; OR, 3.0; 95% CI, 2.1-4.4). Frequency of genotypes GA + AA was higher in patients than HS (97 [53%] vs 107 [29.2%]; P < 0.001; OR, 2.7; 95% CI, 1.8-3.9). Also, nNOS29TT variant genotype in rs2682826 was more com - mon among patients compared to HS (14 [7.7%] vs 6 [1.6%]; P < 0.001; OR, 5.91; 95% CI, 2.2-15.8). Conclusions: Achalasia is associated with eNOS4a4a, iNOS22GA, and nNOS29TT genotypes. This may suggest that polymorphisms of eNOS, iNOS, and nNOS genes are risk factors for achalasia. (J Neurogastroenterol Motil 2015;21:380-389)
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Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
Akanchha Kesari,M Mohammed Idris,Giri Raj Chandak,Balraj Mittal 생화학분자생물학회 2005 Experimental and molecular medicine Vol.37 No.3
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but the clinical severity may be modified by copy number of homologous gene SMN2 as wel as the extent of deletion at SMN locus. In the view of scarcity of genotype and phenotype corela-tion data from India, this study has been under-taken to determine that corelation in SMA pa-SMN and NAIP genes and two polymorphic markers C212 and C272 located in this region. Two to four aleles of the markers C212 and C272 were observed in normal indivi-duals. However, majority of Type I patients show-ed only one alele from both markers whereas in Type II and II patients, 2-3 alleles were observed. The SMN2 copy number in our type II patients showed that patients cary 3-5 copies of SMN2 gene. Our results sugest that extent of deletions encompassing H4F5, SMN1, NAIP and copy num-ber of SMN2 gene can modify the SMA pheno-type, thus acounting for the diferent clinical subtypes of the disease.
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Minal Vaish,Anjali Mishra,Manish Kaushal,Saroj K Mishra,Balraj Mittal 생화학분자생물학회 2004 Experimental and molecular medicine Vol.36 No.2
Thyroid tumors display diverse spectrum of his-topathological groups with geographic variation in its prevalence. Influence of iodine deficiency (a major causative factor) in its etiology, prevalence, or aggressiveness is debatable which reflects the existence of various genetic events in pathoge-nesis. The present study was undertaken to study the role of Microsatellite instability (MSI) or LOH (loss of heterozygosity), an indicator of defective mismatch repair system as a genetic change and tumors. Tumor tisues from total thyroidectomy surgical specimens and blood (matched control) of 36 patients from iodine deficient areas (10 benign; 26 malignant) were obtained after their consent. Urinary iodine analysis was done by alkali ash method for which 10 ml of urine was colected from 18 patients before surgery. Genomic DNA, isolated from tumor tissue and blod was am-plified by polymerase chain reaction (PCR) using mono and dinucleotide markers - BAT-26, BAT-40, TGF(RII, IGFIIR, hMSH3, BAX, D2S123, D9S283, on 8% denaturing polyacrylamide gel folowed by autoradiography. Of total, 66.6% of tumors [70% (7/10) benign and 65.4% malignant cases (17/26)] showed MSI/LOH. Strong asociation of MSI/LOH with low iodine (P = 0.01) and with AMES risk groups i.e. age (P= 0.02), tumor size (P= 0.04) and metastases (P = 0.002) in thyroid tumors was observed. This may help in predicting the biolo-gical behaviour and strengthening the hypothesis thyroid tumors. Our results further substantiate the risk group clasification and help in deciding the treatment modality in particular patient.
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Malik, Manzoor Ahmad,Umar, Meenakshi,Gupta, Usha,Zargar, Showkat Ali,Mittal, Balraj Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.10
Background: Phospholipase C epsilon 1 (PLCE1) encodes a member of the phospholipase family of proteins that play crucial roles in carcinogenesis and progression of several cancers including esophageal cancer (EC). In two large scale genome-wide association studies (GWAS) single nucleotide polymorphisms (SNP, rs2274223A>G, rs3765524C>T) in PLCE1 were identified as novel susceptibility loci of esophageal cancer (EC) in China. The aim of the present study was to investigate this finding in Kashmir Valley, a high risk area. Materials and Methods: We determined genotypes of three potentially functional SNPs (rs2274223A>G, rs3765524C>T and rs7922612C>T) of PLCE1 in 135 EC patients, and 195 age and gender matched controls in Kashmiri valley by PCR RFLP method. Risk for developing EC was estimated by binary logistic regression using SPSS. Results: The selected PLCE1 polymorphisms did not show independent association with EC. However, the $G_{2274223}T_{3765524}T_{7922612}$ haplotype was significantly associated with increased risk of EC (OR=2.92; 95% CI=1.30-6.54; p=0.009). Smoking and salted tea proved to be independent risk factors for EC. Conclusions: Genetic variations in PLCE1 modulate risk of EC in the high risk Kashmiri population.
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