共查询到20条相似文献，搜索用时 15 毫秒
1.
S. Vasisht R. Gulati R. Narang N. Srivastava L. M. Srivastava S. C. Manchanda D. P. Agarwal 《Indian journal of clinical biochemistry : IJCB》2002,17(1):99-107
An elevated level of plasma homocysteine, sulfur containing amino acid generated through demethylation of methionine has been
widely accepted as a risk factor for cardiovascular disease (CVD). The increase can result from genetic and/or nutrient related
disturbances in the remethylation or transsulfuration pathways for homocysteine metabolism. A common mutation (C677T) in the
gene encoding for the enzyme 5, 10-methylenetetrahydrofolate reductase (MTHFR) or deficiency of the B vitamins namely folic
acid, B12, B6 can lead to hyperhomocysteinemia.
In the present study, we have investigated the incidence of the (C677T) MTHFR polymorphism in the North Indian males. 141
angiographically proven coronary artery disease (CAD) patients and 55 age and sex matched healthy volunteers were examined
for the association between MTHFR gene polymorphism and CAD. The MTHFR genotyping was performed using polymerase chain reaction
(PCR) followed by restriction-isotyping with Hinf 1 endonuclease. A trend for higher ‘T’ allele frequency (0.19) was observed
in patients than in controls (0.16). However no significant association was found between C677T mutation and CAD severity.
The lack of statistical significance could be due to the small sample size studied. Hence a larger study including various
ethnic groups is warranted. 相似文献
2.
Graves’ disease (GD) is an organ-specific heterogenous autoimmune disorder associated with T-lymphocyte abnormality affecting
the thyroid, eyes and skin. GD is a multifactorial disease that develops as a result of complex interaction between genetic
susceptibility genes and environmental factors. It has been suggested that the Cytotoxic T lymphocytes associated molecule-4
(CTLA-4) is a genetic susceptibility candidate for GD. The present study was focused on A/G polymorphism at position 49 in
exon-1 of the CTLA-4 gene in 80 GD patients (GP) and 80 sex and age matched healthy individuals among South Indian (Madurai)
population. Serum concentrations of thyroid hormone (T4, T3 and TSH) were determined by using automated analyzer. The genomic DNA was isolated from the patient and control groups and
genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis using Bbv1. Significant difference (P < 0.001) was observed in the level of T3, T4 and TSH in GD patients and healthy individuals. The results revealed the CTLA-4 gene G/G genotype to be 32 (40%) in patients
and 26 (32.50%) in healthy individuals, A/G genotype to be 37 (46.25%) in patients and 25 (31.25%) in healthy individuals
and A/A genotype to be 11 (13.75%) in patients and 29 (36.25%) in healthy individuals. The calculated odds ratio (OR) in individuals
with mutant genotype (GG/AG) reveal 3.6 fold risk for GD (95% confidence interval = 1.6–7.8). The mutant “G” allele frequency
was observed to be 0.63 in GD patients and 0.48 in healthy individuals. Thus the present study demonstrates an association
between the CTLA-4 gene polymorphism and Graves’ disease. 相似文献
3.
目的 用基因芯片对胎儿卵巢组织和成人卵巢组织进行HLA-DRB1分型,对于进一步了解胎儿卵巢基因型及其档案的建立进行了初步探索.方法 将6份胎儿卵巢组织分别与育龄妇女及绝经后妇女卵巢组织的基因组DNA,通过组间特异引物不对称扩增,扩增中同时用荧光素Cy3标记.扩增标记后的产物与结合在HLA-DRB1基因分型芯片上的探针进行杂交,通过荧江扫描仪对杂交产生的荧光信号值进行分析,确定样品的HLA-DRB1基因型.结果 18例卵巢组织样本中,纯合子只有1例,其余均为杂合子.其中两例胎儿卵巢组织的HLA-DRB1型别分别与一例育龄妇女卵巢组织及一例绝经后妇女卵巢组织相吻合.芯片重复率为100%.结论 基因芯片是一种理想的分型方法,具有特异性高、重复性好、操作简便、所需时间少、结果判读容易、一次可作多份样本的优点.通过这种技术对胎儿卵巢HLA-DRB1进行快速分型,可为卵巢移植手术的供受体选择节约了时间和成本,并可进一步建立胎儿卵巢组织的基因型档案,为卵巢移植工作开展奠定基础. 相似文献
4.
The current epidemic affecting Indians is coronary artery disease (CAD), and is currently one of the most common causes of mortality and morbidity in developed and developing countries. The higher rate of CAD in Indians, as compared to people of other ethnic origin, may indicate a possible genetic susceptibility. Hence, Lp(a), an independent genetic risk marker for atherosclerosis and cardiovascular disease assumes great importance. Lp(a), an atherogenic lipoprotein, contains a cholesterol rich LDL particle, one molecule of apolipoprotein B-100 and a unique protein, apolipoprotein (a) which distinguishes it from LDL. Apo(a) is highly polymorphic and an inverse relationship between Lp(a) concentration and apo(a) isoform size has been observed. This is genetically controlled suggesting a functional diversity among the apo(a) isoforms. The LPA gene codes for apo(a) whose genetic heterogeneity is due to variations in its number of kringles. The exact pathogenic mechanism of Lp(a) is still not completely elucidated, but the structural homology of Lp(a) with LDL and plasmin is possibly responsible for its acting as a link between atherosclerosis and thrombosis. Upper limits of normal Lp(a) levels have not been defined for the Indian population. A cut off limit of 20 mg/dL has been suggested while for the Caucasian population it is 30 mg/dL. Though a variety of assays are available for its measurement, standardization of the analytical method is highly complicated as a majority of the methods are affected by the heterogeneity in apo(a) size. No therapeutic drug selectively targets Lp(a) but recently, new modifiers of apo(a) synthesis are being considered. 相似文献
5.
Alocholism is the multifactorial disease influenced by genetic environmental interaction and genetic variation of the genes
may be associated with alcohol dependence due to its modified function in behavioral and physiological responses. In the present
study, genetic variation was detected in the subtypes of gene, coding for the alcohol metabolizing enzyme Alcohol Dehydrogenase
2 (ADH2). Blood samples were collected from the alcoholic and non alcoholic subjects and genotyping was performed using PCR-RFLP
(Polymerase Chain Reaction-Restriction Fragment Length Polymorphism), analysis to determine genetic polymorphisms in the ADH2
gene subtypes. The three subtypes of ADH2 gene (ADH2.1, ADH2.2 and ADH2.3) were found in both alcoholics (Family History Positive
and Family History Negative) as well as non alcoholics. 相似文献
6.
7.
Dil-Afroze Dinesh Sharma G. N. Dhobi Sonaullah Shah Rafiqa Eachkoti Ishraq Hussain Zafar A. Shah Mushtaq A. Siddiqi 《Indian journal of clinical biochemistry : IJCB》2006,21(2):76-79
Pleural effusion is one of the commonest presentations of tuberculosis, the clinical manifestations being typically abrupt
resembling bacterial pneumonia. Since delayed hypersensitivity is the underlying immune response, bacterial load is very low.
Owing to these facts, tuberculous pleurisy as an extra-pulmonary disease poses a diagnostic dilemma. The conventional bacteriological
methods rarely detect Mycobacterium tuberculosis in pleural fluid and are of limited use in diagnosis of tuberculous pleurisy.
We evaluated the efficacy of polymerase chain reaction (PCR) in the diagnosis of tuberculous pleurisy by targeting the gene
segment coding for MPB64 protein specific forMycobacterium tuberculosis. Based on the clinical criteria, 82 patients with lymphocytic exudative pleural effusion were included in the study. Patients
were analyzed in two groups; one group consisting of 48 patients of tubercular pleural effusion confimed by various diagnostic
procedures and another group of 34 patients comprising of non-tubercular pleural effusion. There were no false positive results
by PCR and the specificity worked out to be 100%. Twenty two patients tested positive for Mantoux with a sensitivity of 45%.
ZN-staining for AFB was found in samples from 15 patients (20% sensitivity). ADA was positive for 28 patients with a sensitivity
of 53%. PCR was positive for 32/48 patients (67% sensitivity). Thus, PCR was found to be more sensitive than any other conventional
method in diagnosis of clinically suspected tubercular pleurisy. 相似文献
8.
Alex Livy Sayhean Lye Chahil K. Jagdish Nurul Hanis Velapasamy Sharmila Lian Wee Ler Bagali Pramod 《Indian journal of clinical biochemistry : IJCB》2012,27(1):28-33
Buccal cell usage has been shown by many to be a cost effective and safe method to isolate DNA for various biological experiments
especially large epidemiological studies (Garcia-Closas et al. Cancer Epidemiol Biomarkers Prev 10:687–696, 2001). Non-invasive DNA collection methods are preferred over phlebotomy in order to increase study participation and compliance
in research centers and for sick patients in hospital settings. There have been conflicting reports about the methodology
and results obtained from using buccal DNA. It is not very clear if phlebotomy can be confidently replaced by buccal cell
DNA. It is often left for the user to take an intelligent decision. To address this issue, we compared the performance of
buccal and blood DNA from same subjects in a genotyping experiment and this paper reports the results. Cotton swab derived
buccal cells were scraped from the inner side of cheeks from 16 subjects, and blood was also drawn from the same 16 subjects
participating in a genotypic association study of a lipid disease. The DNA quality was assessed by resolving on agarose gels,
checking purity (A260/A280) and finally by microarray hybridization. This study showed that DNA degradation affects the total
yield and performance of the buccal DNA when compared to the blood DNA in microarray based genotyping. Genotyping results
can be seriously compromised if care is not taken to check the quality and yields of such specimens. 相似文献
9.
《Electronic Journal of Biotechnology》2014,17(2):95-101
BackgroundWeedy rice (Oryza sativa L.) is a noxious form of cultivated rice (O. sativa L.) associated with intensive rice production and dry seeding. A cost-efficient strategy to control this weed is the Clearfield rice production system, which combines imidazolinone herbicides with mutant imidazolinone-resistant rice varieties. However, imidazolinone resistance mutations can be introgressed in weedy rice populations by natural outcrossing, reducing the life span of the Clearfield technology. Timely and accurate detection of imidazolinone resistance mutations in weedy rice may contribute to avoiding the multiplication and dispersion of resistant weeds and to protect the Clearfield system. Thus, highly sensitive and specific methods with high throughput and low cost are needed. KBioscience’s Allele Specific PCR (KASP) is a codominant, competitive allele-specific PCR-based genotyping method. KASP enables both alleles to be detected in a single reaction in a closed-tube format. The aim of this work is to assess the suitability and validity of the KASP method for detection in weedy rice of the three imidazolinone resistance mutations reported to date in rice.ResultsValidation was carried out by determining the analytical performance of the new method and comparing it with conventional allele-specific PCR, when genotyping sets of cultivated and weedy rice samples. The conventional technique had a specificity of 0.97 and a sensibility of 0.95, whereas for the KASP method, both parameters were 1.00.ConclusionsThe new method has equal accuracy while being more informative and saving time and resources compared with conventional methods, which make it suitable for monitoring imidazolinone-resistant weedy rice in Clearfield rice fields. 相似文献
10.
11.
Tester F. Ashavaid Seema P. Todur Kappiareth G. Nair 《Indian journal of clinical biochemistry : IJCB》2002,17(1):83-93
Apolipoprotein E genotypes and lipid and lipoprotein levels were determined in hypercholesterolemic and angiographically vertified
CHD subjects and compared against 90 normolipidemic controls. The ε4 allele was significantly prevalent in the hypercholesterolemic
and CHD subjects. Significant increase in total cholesterol levels in apo ε4 containing subjects were observed in the hypercholesterolemic
and CHD group. The study suggests that the ε4 allele by influencing the lipid levels could act as a risk factor for CHD. 相似文献
12.
Manorama Swain Truptirekha Swain Binoy Kumar Mohanty 《Indian journal of clinical biochemistry : IJCB》2005,20(1):9-17
Background: Autoimmune thyroid disease (AITD), a common organ specific autoimmune disorder is seen mostly in women between
30–50 yrs of age. Thyroid autoimmunity can cause several forms of thyroiditis ranging from hypothyroidism (Hashimoto’s thyroiditis)
to hyperthyroidism (Graves’Disease). Prevalence rate of autoimmune mediated hypothyroidism is about 0.8 per 100 and 95% among
them are women. Graves’ disease is about one tenth as common as hypothyroidism and tends to occur more in younger individuals.
Both these disorders share many immunologic features and the disease may progress from one state to other as the autoimmune
process changes. Genetic, environmental and endogenous factors are responsible for initiation of thyroid autoimmunity. At
present the only confirmed genetic factor lies in HLA complex (HLA DR-3) and the T cell regulatory gene (CTLA 4). A number
of environmental factors like viral infection, smoking, stress & iodine intake are associated with the disease progression.
The development of antibodies to thyroid peroxidase (TPO) thyroglobulin (TG) and Thyroid stimulating hormone receptor (TSH
R) is the main hallmark of AITD. Circulating T Lymphocytes are increased in AITD and thyroid gland is infiltrated with CD4+
and CD8+ T Cells. Wide varieties of cytokines are produced by infiltrated immune cells, which mediate cytotoxicity leading
to thyroid cell destruction. Circulating antibodies to TPO and TG are measured by immunofluorescense, hemagglutination, ELISA
& RIA. TSHR antibodies of Graves’ disease can be measured in bioassays or indirectly in assays that detect antibody binding
to the receptor. 相似文献
13.
M. Prasad D. Rajarajeswari P. Aruna K. Ramalingam R. Viswakumar Nusrath Fathima Sandeep Kumar Vishwakarma Aleem Ahmed Khan 《Indian journal of clinical biochemistry : IJCB》2022,37(3):335
Essential hypertension (EH) is a multifactorial and complex disease with high rate of incidence and associated co-morbidities. Previous studies do not provide unanimous results for the risk of hypertension and association with Fok I genotype frequency and serum vitamin D levels. Hence, this study was undertaken to determine the status of Fok I vitamin D receptor (VDR) gene polymorphism along with vitamin D levels and blood pressure in patients with EH. Four hundred (200 controls and 200 cases of essential hypertension) participants from general Indian population were enrolled in this study. Peripheral blood samples were collected for genotyping Fok I-VDR gene polymorphism using PCR–RFLP method whereas 25-OH vitamin D levels in serum were quantified using high performance liquid chromatography (HPLC). Significantly reduced 25-OH vitamin D levels were observed in patients with EH (24.04 ± 8.62 vs 50.46 ± 15.46) compared to control subjects (p = 0.0001). Homozygous recessive genotype ‘ff’ frequency was increased by 8.06 fold (CI: 3.71–17.47, p = 0.0001) in patients with EH compared to dominant ‘FF’ genotype frequency. In conclusion, recessive ‘ff’ genotype frequency correlates with reduced serum vitamin D levels and results in significantly increased systolic and diastolic blood pressures leading to predisposition of EH. 相似文献
14.
International Guidelines have voted for PCR as the Gold Standard in COVID diagnosis. Nasoparyngeal swab is the preferred specimen for PCR. It has a high probability of diagnosing early infection. But the diagnostic sensitivity of nasopharyngeal PCR decreases with increase in lapse between the infection and presentation to hospital. This might lead to dire consequences of labelling these patients as false negative, though such patients have been proved to be potentially infective since viral shedding occurs through other body fluids (stools) for long. COVID infection reveals that the IgM antibodies start to appear as early as 5th day of infection and switches over to IgA within 2–3 days. The aim of the study was to see if COVID antibody testing be coupled with PCR for diagnosis especially in patients presenting late (more than 14 days) of onset of infection? And if the antibodies are giving values, hence can them be reported quantitatively rather than in qualitative fashion? The second objective was to see if the COVID antibody levels be used to monitor the disease severity? And if the antibody levels of SARS CoV 2 be used an indicator to monitor the recovery? 相似文献
15.
Patra SK Jain A Sherwal BL Khanna A 《Indian journal of clinical biochemistry : IJCB》2010,25(3):315-318
To detect the site of mutation in RRDR of rpo B gene for rifampicin resistance in MDR-TB by DNA sequencing. 50 MDR-TB patients
were enrolled in our study after informed written consent. Mycobacterial DNA was extracted from sputum samples by Universal
Sample Processing (USP) method and RRDR of rpo B gene was amplified by PCR using primers RP4T and RP8T and then sequenced
by automated DNA sequencing. The nucleotide sequences of RRDR of rpo B gene were compared with the reference sequence. We
observed three different types of mutation in the RRDR of rpo B gene. The frequency of mutation in codon 531 (TCG → TTG),
526 (CAC → TAC) and 516 (GAC → GTC) are 60, 26.6 and 6.6% respectively. Of the total cases studied, 6.6% cases, although resistant
to rifampicin, did not show any mutation in the RRDR of rpo B gene. Codon 531 (TCG → TTG) is the most common site of mutation
in RRDR of rpo B gene for rifampicin resistance in MDR-pulmonary tuberculosis followed by codon 526 (CAC → TAC) and codon
516 (GAC → GTC). 相似文献
16.
Kalpana Luthra Suman Vasisht Shivani Chhabra K. R. Raju D. P. Agarwal S. C. Manchanda L. M. Srivastava 《Indian journal of clinical biochemistry : IJCB》1998,13(1):12-19
Lipoprotein Lp(a) excess has been identified as a powerful predictor of premature atherosclerotic vascular diseases. To evaluate
this in a North-Indian population, 130 CAD patients and 130 controls were analyzed. The size of the apo(a) phenotypic isoforms
was inversely proportional to Lp(a) concentrations. The mean concentration of Lp(a) in the CAD patients was 42±34 mg/dl whereas
in the normal subjects it was much lower, 27±27 mg/dl. 157 subjects out of the total 260 subjects showed plasma levels of
>20mg/dl. The frequency of high Lp(a) levels was much higher in patients(73%) than controls (43%). These data suggest (1)
that there is heterogeneity of the Lp(a) polymorphism, (2) Higher Lp(a) levels were found in patients than in the controls,
(3) Patients showed 1.5 fold increase in Lp(a) levels as compared to the controls. We conclude that low molecular weight apo(a)
isoforms are significantly associated with increased risk of CAD in the North-Indian population. 相似文献
17.
A. Madhusudhana Rao A. R. Bitla E. P. Reddy V. Sivakumar P. V. L. N. Srinivasa Rao 《Indian journal of clinical biochemistry : IJCB》2010,25(1):47-50
The present study was carried out to explore the altered lipid, lipoprotein and apoprotein abnormalities along with lipoprotein
(a) in chronic kidney disease patients with stage I to V which were further divided into group 1 (stage I and II), group 2
(stage III and IV) and group 3 (stage V). 50 chronic kidney disease patients with stage I to V and 20 healthy normal subjects
as controls were recruited for this study. Among the various parameters tested triglyceride levels were high in group 1 and
2, whereas VLDL cholesterol, Lp (a) and apo B levels were significantly high in all the groups when compared to controls (P<0.05).
However, LDL cholesterol level was significantly low in group 3 only as compared to control group (P<0.05). Apoprotein AI
values also showed significant decrease in all groups as compared to controls (P<0.05). Though total cholesterol levels in
group 1 and LDL levels in group 1 and 2 were higher than controls, but the values attained not statistically significant (P>0.05).
In conclusion high levels of VLDL cholesterol, Lp (a), apo B and low levels of apoprotein AI as reported in this study are
the major lipid disorders in the development of cardiovascular complications at all the stages in these patients. 相似文献
18.
Sadegh Fattahi Mohammad Karimi Alivije Farhang Babamahmoodi Masomeh Bayani Mahmoud Sadeghi Haddad Zavareh Mohsen Asouri Maryam Lotfi Galia Amirbozorgi Haleh Akhavan-Niaki 《Indian journal of clinical biochemistry : IJCB》2018,33(4):467-472
Hepatitis B virus (HBV) infection is a worldwide health concern which is associated with significant morbidity and mortality. Both viral and host factors have a significant effect on infection, replication and pathogenesis of HBV. The aim of this study was to investigate the effect of CYP2E1 and CYP1A1 genetic variants on susceptibility to HBV. 143 individuals including 54 chronic HBV patients and 89 healthy controls were enrolled in the genotyping procedure. rs2031920 and rs3813867 at CYP2E1 as well as rs4646421 and rs2198843 at CYP1A1 loci were studied in all subjects using PCR–RFLP (restriction fragment length polymorphism) analysis. Both variants at CYP2E1 locus were monomorphic in all studied subjects. Genotype frequency of rs4646421 was significantly different between chronic HBV patients and healthy blood donors (P = 0.04, OR 4.31; 95% CI 1.04–17.7). Furthermore, individuals carrying at least one C allele (CC or CT genotypes) for rs4646421 seemed to have a decrease risk of hepatitis in comparison with TT genotype (P = 0.039). Our results showed a relationship between rs4646421 TT genotype (rare genotype) and the risk for developing chronic HBV infection (four times higher). Further studies are needed to examine the role of CYP1A1 polymorphism in susceptibility to chronic HBV infection. 相似文献
19.
Three different sets of primers were designed using FASTA homology search and PRIMERSELECT for the specific detection ofNeisseria gonorrhoeae using polymerase chain reaction (PCR). These primers amplified the highly conserved regions of genes for Open Reading Frame
(ORF), Outer Membrane Protein (OMP) and 23S rRNA sequences ofN. gonorrhoeae. Each of the PCR primer set was evaluated using the DNA samples isolated from eight different positive isolates ofN. gonorrhoeae cultured from urethral swabs of patients visiting Maulana Azad Medical College and Safdarjung Hospital. Amplification products
were analyzed on agarose gel electrophoresis. Two sets of PCR primers, designated as Ngu1/Ngu2 and Ngu5/Ngu6, specific for
ORF and OMP gene respectively, amplified four regions of the gene which may help to differentiate the various strains ofN. gonorrhoeae infecting indigenous population. In contrast, a single, specific PCR product of 650 bp was visualized on agarose gel with
primers Ngu3/Ngu4, amplifying the 23S rRNA gene. Under optimum conditions, as low as 25ng of DNA isolated from eight different
clinical strains ofN. gonorrhoeae could be detected by PCR using Ngu3/Ngu4 set of primers. Our results suggested that Ngu3/Ngu4 could serve as good primers
for the specific, reproducible and sensitive diagnosis ofNeisseria gonorrhoeae from clinical samples. 相似文献
20.
Ritu Singh Vijjaya Madhulika Kabra 《Indian journal of clinical biochemistry : IJCB》2006,21(1):147-151
Duchenne muscular dystrophy (DMD) is the most common X-linked disorder in children affecting 1 in 3500 males. Since, as of
now, we have no treatment for DMD, carrier detection and prenatal diagnosis is the most important preventive strategy. Multiplex
PCR helps in rapid detection of hot spot exonal deletions (positive in 65% of cases) as many exons can be identified in a
single run. 10 children with characterstic clinical features of DMD and chorionic villus samples of 10 antenatal patients
with positive family history were studied. We identified a deletion mutation in exon 49 of the dystrophin gene in a 4 yr old
boy referred with signs and symptoms suggestive of DMD using primers for exons 45, 48, 49, 43, 44, 19, 3, 8, 13 and muscle
promoter, subjected to multiplex polymerase chain reaction (PCR) and agarose/Nu-Sieve gel electrophoresis. These genetic methods
aid in prenatal diagnosis of DMD as well as confirmation of diagnosis in children with signs and symptoms suggestive of the
disease.
Work done as WHO fellow in Deptt. of Genetics, All India Institute of Medical Sciences, New Delhi. 相似文献