Journal of
Medical Genetics and Genomics

  • Abbreviation: J. Med. Genet. Genomics
  • Language: English
  • ISSN: 2141-2278
  • DOI: 10.5897/JMGG
  • Start Year: 2009
  • Published Articles: 48

JMGG Articles

The impact of genome information on mate selection: From the African perspective

November 2017

Mate selection in humans is an important social activity which is central to every individual’s life. The debate on the ethics of generating and using genetic information has been of concern to several researchers from the time of the completion of the human genome project till now. Some of the important questions to consider include whether it is ethical to generate and use genetic information in mate selection....

Author(s): Samuel Mawuli Adadey

Evaluation of BNC2 as a new candidate gene for hypospadias

March 2015

In order to evaluate the use of the BNC2 gene in clinical practice regarding hypospadias, the presence of the impact of mutations in BNC2 gene in males who had been treated surgically for hypospadias in Sweden (N=413) and controls (N=455) were evaluated. Mutational screening was performed using Sanger sequencing and genotyping by Taqman allelic discrimination, and the findings were evaluated by disease-causing potential...

Author(s): Anna Skarin Nordenvall, Jia Cao, Ellen Markljung, Izabella Baranowska Körberg and Agneta Nordenskjöld,

Meta-analysis of methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of orofacial cleft

July 2014

Polymorphisms in key genes involving the folate pathway have been reported to be associated with the risk of orofacial cleft (OFC) and several studies were published with conflicting results. A meta-analysis of the previous studies of allelic association between OFC with A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene was carried out. Odds ratios (ORs) with 95% confidence intervals (CIs)...

Author(s): Vandana Rai

A study of correlation between CYP2C9 gene polymorphism and Warfarin maintenance dose in anticoagulant therapy among Han people in Yunnan of China

January 2014

In this study, we investigated the correlation between CYP2C9 gene polymorphism and maintenance dose of Warfarin in 300 patients who were the Han population derived from the Affiliated Yan An Hospital of Kunming Medical University in Yunnan Province of China, subjected to the operation of cardiac valve replacement and Warfarin oral administration post operation from 2008 to 2009 by detecting the genotypes and Allele...

Author(s): ZhiYu Chen, Jintao Li, Xuemei Dong, JianXing Liu, Hui Gao, Liping Zhao and BingYing Xu

Mutation N308T of protein tyrosine phosphatase SHP-2 in two Senegalese patients with Noonan syndrome

January 2014

Noonan syndrome is a genetic autosomal dominant disorder characterized by facial dysmorphy, short stature, delayed puberty and congenital heart defects. The first gene implicated in this syndrome is PTPN11, encoding protein tyrosine phosphatase SHP-2. Several studies worldwide have identified missense mutations in this gene in patients with Noonan syndrome. Our objective focused on mutations screening of PTPN11 on a...

Author(s): Rokhaya Ndiaye, Coumba Ndiaye, Mohamed Leye, Babacar Mbengue, Mama Sy Diallo, Jean Pascal Demba Diop, Omar Faye, Ibrahima Bara Diop and Haby Signaté Sy

The codon 17 polymorphism of the CTLA4 gene in type 1 diabetes mellitus in the Baghdad population

January 2014

The aim of this work was to study the polymorphism in CTLA4 gene in insulin-dependent diabetes mellitus (IDDM) type I patients in Baghdad population. To achieve this goal, blood samples were collected from 80 IDDM (40 males and 40 females) and 20 samples of healthy, DNA was isolated and the CTLA4 gene (A 152 bp fragment) were amplified by using specific primers for exon1 of this gene, and then found the sequence of this...

Author(s): Najwa S. H. Ahmed

Preparation and partial characterization of monoclonal antibody against human phosphdiesterase 5 (PDE5)

February 2013

Phosphodiesterase 5 (PDE5) is a catalytic enzyme for degradation of cyclic guanosine monophosphate (cGMP) in human smooth muscle cells. Inhibition of this enzyme by certain chemicals including sildenafil, vardenafil and tadalafil, is considered a breakthrough treatment of erectile dysfunction. Unfortunately, these drugs are associated with several side effects. In this study, another strategy is adopted in the...

Author(s): Fawzi Alsheyab, Nizar Abuharfil, Mohanad Aldarouish, Dalal Awad and Yousef Mosameh

Association of insertion/deletion polymorphism of Alu angiotensin converting enzyme insertion/deletion genotype with type 2 diabetes mellitus and hypertension in J&K population: A case control study

February 2013

The objective of the study is to know the frequencies of insertion/deletion (I/D) allele and association of angiotensin converting enzyme (ACE), I/D polymorphism in Jammu and Kashmir (J&K) populations in relation to type 2 diabetes mellitus (T2DM) and hypertension (HTN). A total of 500 individuals were recruited for the present study. Out of these 500 individuals, 250 individuals had T2DM and HTN and 250 were...

Author(s): Rakesh K. Panjaliya, Surbhi Sethi, Minakashee Sharma, Ravi Sharma, Parvinder Kumar and Subash Gupta

Evaluation of methylenetetrahydrofolate reductase C677T gene polymorphism associated risk factor in the patients of recurrent pregnancy loss

March 2012

The etiology of human recurrent fetal loss is associated with methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism. Several conflicting reports on MTHFR gene polymorphism increases the curiosity, with the aims to evaluate the prevalence of MTHFR gene in recurrent miscarriage cases using PCR-RFLP analysis. The present findings reveal that the highest (26.7%) incidence was observed in heterozygote (CT)...

Author(s): Ajit K Saxena, S Pandey and LK Pandey

Teeth are bones: Signature genes and molecules that underwrite odontogenesis

March 2012

Understanding the molecular genetics of odontogenesis (tooth development) can unlock innovative avenues to genetically engineer teeth for therapy. In this review, emerging insights into the genetic and molecular bases of tooth development are presented. Four conserved signature genes express master molecules (fibroblast growth factors, bone morphogenetic proteins, wingless integrated ligands and sonic hedgehog protein)...

Author(s): Kazhila C. Chinsembu

A comparative study of cDNA microarray analysis of familial and sporadic breast cancer in India

January 2012

Many genes and signalling pathways controlling cell proliferation, death and differentiation, as well as genomic integrity, are involved in cancer development. Techniques, such as cDNA microarrays, have enabled measurement of the expression of thousands of genes in a single experiment, revealing many new, potentially important cancer genes. Human breast cancer is usually caused by genetic alterations of somatic cells of...

Author(s): Suyamindra S. Kulkarni, Bhushan B. Kulkarni, Vandana T., Sujayendra S. Kulkarni, Gurushantappa S. Kadako, Harendra Modak, Rashmi Rasalkar, Suresh B., Prakashgouda H. K., Shivaprakash V. Herimath, Basavaraj R. Patil, Ashalatha K. V., Tipperudra A. Shepur, Vijayachandra B., Muralidhar L. Kulkarni, Kumarasamy Thangaraj and  Pramod B. Gai

Relationship between H-RAS oncogene and uterine cancer  

December 2011

The current study is skillful to detect the mutations of the H-RAS oncogene in patient of uterine cancer. Thirty specimens of blood and tissue were collected for DNA extraction, H-RAS oncogene amplification and histopathology examination. The results, which revealed presence of mutations in H-RAS oncogene represented by homozygous wild type Leu/Leu was 20%, mutant translocation genotype Val/Val was 48%, mutant deletion...

Author(s): Majeed Hussein Al-Sarry

Trisomy 21 in children born with anorectal malformation

December 2011

Cytogenetic analysis in 24 clinically diagnosed cases of anorectal malformation carried out using GTG banding techniques showed trisomy 21, the chromosomal abnormality of Down syndrome in 4 cases. Of the 4 cases, 3 were male children and 1 was female child and the remaining 21 cases had normal karyotype of a male or female. Four cases as were found possessing the karyotype of Down syndrome were phenotypically not having...

Author(s): Ashma Gupta, A. S. Yadav, Minakashee Sharma and Ravi Sharma

Breast cancer risk associated mitochondrial NADH-dehydrogenase subunit-3 (ND3) polymorphisms (G10398A and T10400C) in Bangladeshi women

November 2011

Somatic mitochondrial DNA (mtDNA) mutations have been reported in many types of cancer cells, but very few reports document the prevalence of inherited mtDNA polymorphisms including NADH-dehydrogenase (ND3) subunit polymorphisms in cancer patients compared to healthy control populations. Although, few mitochondrial ND3 subunit polymorphisms were reported in different cancers, e.g. breast, esophageal cancer but the...

Author(s): Gazi Nurun Nahar Sultana, Atiqur Rahman, M. Manjurul Karim, A. D. A. Shahinuzzaman, Rokeya Begum and Rowsan Ara Begum

Agrobacterium transformation: A boost to agricultural biotechnology

November 2011

Plant genetic engineering has become one of the most important molecular tools in modern crop breeding. Significant progress has been made in the development of new and efficient transformation methods in plants. Agrobacterium remains one of the predominant microbes employed in this approach. In particular, progress inAgrobacterium –mediated transformation of varieties of agricultural plants such as...

Author(s): Mohammed A and Abalaka M. E.

Gene mapping in a highly inbred consanguineous foveal hypoplasia family to cytogenetic region 16q24.1

October 2011

A highly inbred uncle-niece, second degree consanguineous Foveal hypoplasia affected family with four members was subjected to gene mapping. Members underwent detailed ophthalmic evaluation including best corrected distance and near vision measurements, color vision assessment, fundus evaluation and flourescence angiography, horizontal corneal diameter measurement, total axial length measurement, optical coherence...

Author(s): Venkata Ramana Anandula, Rohit Shetty, AjoyVincent, Ramprasad VL and N Ramesh

Role of pyruvate dehydrogenase kinases (PDK’s) and their respective microRNA’s in human ovarian cancer

October 2011

Cancer is a metabolic disorder and in energy metabolism, pyruvate dehydrogenase kinases (PDKs) play a very vital role, which make them important candidate for involvement in cancer. The bioinformatics analysis performed on ovarian cancer data sets taken from gene expression Omnibus proved the up regulation of PDK2 and PDK4. The regulating microRNA’s for these two genes were also predicted computationally, which...

Author(s): Sheema Sameen, Zoya Khalid and Shaukat Iqbal Malik

Phytosome: An emerging trend in herbal drug treatment

August 2011

Herbal medicines have been widely used all over the world since ancient times and have been recognized by physicians and patients for their better therapeutic value as they have no or fewer adverse effects as compared with modern medicines. Phytosome is a novel approach to drug delivery system that addresses the limitations of the traditional drug delivery systems. Phytosomes are advanced forms of herbal products that...

Author(s): J.A. Saonere Suryawanshi

Human leukocyte antigens (HLA) HLA-DQA1 and -DQB1 genotyping in Helicobacter pylori-seropositive individuals

August 2011

This work aimed at studying the HLA-DQA1 and HLA-DQB1 genotyping in gastritis patients with positive rapid urease test (RUT). This study was carried out in College of Medicine, University of Basrah. HLA-DQA1 and HLA-DQB1 genotyping was done in College of Medicine, University of Manitoba, Winnpeg, Canada during the period from 17th of April 2009 to 15th of July 2010. A total of 70 gastritis patients (29 males and 41...

Author(s): Nibras S. Al-Ammar, Ihsan E. Al-Saimary, Saad Sh. Hamadi, Ma Luo, Trevor Peterson and Chris Czarnecki

An improving DNA isolation method for identification of anaerobic bacteria in human colostrum and faeces samples

May 2011

The efficiency, with which the lysis of 20 anaerobic bacterial samples [8 different bacterial species isolated from 4 colostrum and 4 infants (which are fed only by breast milk and from 3 to 30-day-old) faeces] were lysed, was tested using a reference or an improving method that involves higher levels of lysozyme (Sigma-Aldrich) and proteinase K solution (Sigma-Aldrich). Eight species were lysed with the efficiency of...

Author(s): Hasibe Cingilli Vural and Dilek Ozgun

The effects of mitochondrial dysfunction in schizophrenia

May 2011

Mitochondria are unique and important organelles in terms of energy production for the eukaryotic cell. Through complexes of the electron transport chain embedded in the mitochondrial membrane, the cell is able produce large amounts of ATP. Mitochondria posses their own genome, some of which encodes for the subunits of these protein complexes. From the comorbidity of psychotic symptoms seen in those with mitochondrial...

Author(s): Maryann Manatt and Sathees B. Chandra

Antisense therapy, a magic bullet for the treatment of various diseases: Present and future prospects

May 2011

Antisense oligonucleotides (ASO) are becoming more widely accepted as potential therapeutics for various diseases. Antisense therapy has emerged as an exciting and promising strategy for the treatment of various diseases. Antisense are different from conventional drugs that are designed to interact with protein molecule. Antisense drugs have more selective action and they have the potential to be more effective and less...

Author(s): Jyotsna A. Saonere

An alternative method for high throughput RNA isolation from whole blood

April 2011

We have developed an efficient, cost effective, and high-throughput RNA isolation method for whole blood. By optimizing the blood processing steps and using the MagMAXÔ-96 platform from Applied BiosystemsÒ for high-throughput RNA isolation, we were able to isolate high quality and quantity RNA from whole blood using a simple and cost effective protocol that may be useful on a variety of blood...

Author(s): Damir Simic, Terry Van Vleet, Catherine Euler, Phillip Marx, R. Todd Bunch, W. Mike Peden and Thomas Sanderson

Glutathione S- transferase M1 and T1 gene polymorphisms in South Indian stroke patients

April 2011

Stroke is a multifactorial disease caused by the interaction of several genetic and environmental factors and a variety of risk factors such as blood pressure, diabetes, advanced age and smoking. Active cigarette smoking has been established as a major risk factor for coronary heart disease and for both ischemic and hemorrhagic stroke and the risk is particularly elevated in younger people. Glutathione S- transferases...

Author(s): Shehnaz Sultana, Venkata Kolla K., Vidyullatha P., Yasovanthi Jeedigunta, Pranay Penagaluru K., Sindhu Joshi, Usha Rani P. and Reddy P. P., 

Evaluation of oxidative damage to peptic tissue DNA and gastric juice levels of nitric oxide and oxidative stress in smokers and non-smokers with signs of dyspepsia

April 2011

Smoking elevates risk of peptic ulcer and gastrointestinal cancer in human being. In this study, the severity of the damage was assessed by detection of nitric oxide levels, oxidative stress of gastric juice in smokers and non-smokers. 43 smoker patients with active peptic ulcer as case group and 43 non-smokers without peptic ulcer, 43 smokers without peptic ulcer and 43 non-smokers with active peptic ulcer as control...

Author(s): Homayun Dolatkhah, Mohammad-Hasan Somi, Ebrahim Fattahi, Sahar Babaee, Mohammad Rahbani-Nobar, Manuchehr Nourazariyan and Behrooz Pourasghari

Glutathione-S-transferase (M1 and T1) polymorphisms in Nigerian populations

April 2011

The Mu (μ) and Theta (Θ) classes of glutathione transferase gene, GSTM1 and GSTT1 are polymorphic in humans. GSTM1 and GSTT1 enzyme deficiencies have been suggested to predispose people to lung, bladder and colorectal cancer. This study was carried out to investigate the distribution of Glutathione transferases (GSTs) genotype frequency in the three major Nigerian ethnic groups with a view to understanding...

Author(s): Benjamin U. Ebeshi, Oluseye O. Bolaji and Collen M. Masimirembwa

Formulation of nitric oxide donors and antibiotic against typhoid

March 2011

Typhoid fever remains a major health problem in India and other developing countries. It often becomes difficult to precisely estimate the global impact of typhoid, as clinical symptoms resemble many other febrile infections. Salmonella, gram negative bacilli, are facultative intra cellular bacteria and can survive during certain stages of host parasite interaction. There are a number of drugs being used for the...

Author(s): S. S. Haque

Identification of Lactobacillus strains isolated from faecal specimens of babies and human milk colostrum by API 50 CHL system

March 2011

Lactic acid bacteria are very significant to human health  due to the production of some antimicrobial substances and ability to inhibit pathogenic bacteria. Furthermore, the bacteria are also used as starter culture in various food production. In this study,Lactobacillus strains were isolated from 100 human milk colostrum samples and 50 faecal samples of 3 to 30-day old infants who were fed on only breast...

Author(s): Dilek Ozgun and Hasibe Cingilli Vural

Detection of (mecA)gene in methicillin resistant Staphylococcus aureus (MRSA) at Prince A / Rhman Sidery Hospital, Al-Jouf, Saudi Arabia

March 2011

The study was conducted in A/ Sidery Hospital Al-Jouf province, Saudi Arabia during, the period September 2008 to May 2009. A total of 930 patients attended the Hospital for routine investigations were screened for urinary tract infection. A total of nine hundred and thirty urine specimens were received in the laboratory for culture, 640 specimens showed significant growth from which 100 Staphylococcus...

Author(s): Meshref Awad Al-Ruaily and Omer Mohamed Khalil

HLA-DQA1 genotyping of Helicobacter pylori associated gastritis patients

February 2011

To study HLA-DQA1 genotyping in Helicobacter pylori associated gastritis patients. This study was carried out in College of Medicine, University of Basrah. HLA-DQA1 genotyping was done in College of Medicine, University of Manitoba, Winnipeg, Canada during the period from 17th of April 2009 to 15th of July 2010. A total of 100 patients (41 males and 59 females and a total of 30 controls (18 males and 12...

Author(s): Nibras S. Al-Ammar, Ihsan E. Al-Saimary, Saad Sh. Hamadi , Ma Luo, Trevor Peterson and Chris Czarnecki

Studies on in-vitro antioxidant and free radical scavenging potential and phytochemical screening of leaves of Ziziphus mauritiana L. and Ziziphus spina-christi L. compared with Ascorbic acid

February 2011

In order to determine the in vitro antioxidant and free radical scavenging potential and phytochemical properties of leaves of Ziziphus mauritiana L. and Ziziphus spina-christi L. in comparism with Ascorbic Acid. The present study was undertaken using in vitro antioxidant methods like hydroxyl radical, DPPH radical, lipid peroxidation and superoxide radical standardization methods. The...

Author(s): Abalaka, M. E. , Mann, A.  and Adeyemo S. O.

Role of belimumab in systemic lupus erythomatosus

February 2011

Systemic lupus erythematosus (SLE) is a chronic, life-threatening autoimmune disease in which the immune system is unbalanced, causing inflammation and tissue damage to virtually any organ in the body. There is no safe and reliable therapy for most serious autoimmune diseases, such as systemic lupus erythomatosus. Severe cases require treatment with corticosteroids or cytotoxic drugs or both, which frequently provide...

Author(s): Jyotsna Anandrao Saonere (Suryawanshi), S. V. Kalikar and Sharda L. Deore

Evaluation of glycemic control, gastric juice nitric oxide and oxidative stress in diabetic patients infected by Helicobacter pylori

January 2011

Recently, diabetes mellitus has been known as one of the main cause of upper gastrointestinal symptoms. It has also been suggested that delayed gastric emptying may lead to bacterial overgrowth in the upper gastrointestinal tract. Since high prevalence of Helicobacter pylori (H. pylori) in diabetic patients has been reported. The aim of this study was to evaluate the relationship between dyspepsia, the level...

Author(s): Homayun Dolatkhah, Mohammad Rahbani-Nobar, Ebrahim Fattahi, Mohammad Ansari, Ahmad Mirza-Aghazadeh, Lida Eftekhari-Vash, Ashraf Fakhrjo and Amir Bahrami

Screening of g.IVS5+1G to a mutation of TG gene and thyroid hormone level among Iraqi thyroid disorders

January 2011

TG gene mutations have been identified in some people who have a goiter but normal or boarder line thyroglobulin levels. These mutations are either caused by gene deletion or single nucleotide mutation as a result. This study aim to screen the frequency of g.IVS5+1G to A mutation of TG gene and thyroid hormone levels among Iraqi thyroid disorders. g.IVS5+1G to A mutation of TG gene and thyroid...

Author(s): AL-Ramahi I. J., AL-Faisal A. H. M., Abudl-Reda I., Aouda N., AL-Atar R.and Barusrux S.

hTERT gene inhibition studies in cancer cells by using polysaccharide lentina

January 2011

Lentinan a polysaccharide from medicinal mushroom that is Lentinus has been known to have anticancer properties. Telomerase activity is not observed in normal healthy cells, where as in cancerous cells telomerase expression is high. Telomerase represents a promising cancer therapeutic target. We investigated the inhibitory effect of lentinan on telomerase reverse transcriptase gene (hTERT) which is essential for...

Author(s): K. Sreenivasulu, M. Vijayalakshmi and K.R.S. Sambasiva Rao

Evidence of association of a common variant of the endothelial nitric oxide synthase gene (Glu298 →Asp polymorphism) to coronary artery disease in South Indian population

January 2011

Genetic variants of endothelial nitric oxide synthase (eNOS) could influence individual susceptibility to coronary artery disease (CAD) with or without association with demographic factors. This study was designed to assess the Glu298 /Asp variant of the eNOS gene in 79 patients with CAD as compared to equal number (79) of controls. The genotype frequencies for eNOS gene polymorphism were determined by PCR and RFLP, and...

Author(s): Rabbani Syed, Moin Uddin Biyabani, Shiva Prasad, Farha Deeba, and Kaiser Jamil

In silico analysis of the two forms of lysine decarboxylase

December 2010

Amino acid decarboxylases are expressed in response to acidic pH in bacteria. Among amino acid decarboxylases, lysine decarboxylase is expressed to levels constituting 2% of the total cell protein during acid stress. In bacteria, two forms of lysine decarboxylase exist, namely the inducible CadA and the constitutively expressed Ldc. The two proteins catalyse the conversion of lysine to cadaverine as an acid tolerance...

Author(s): Gokulnath Krithika and Namasivayam Gautham

Prevalence of mental morbidity amongst prisoners

December 2010

Jails and prisons hold many people that society does not want to have around and it would be wise to keep them there, despite the fact that the legal and correctional system have failed to bring any positive changes in them. Prisoners with mental illness frequently endure violence, exploitation and extortion at the hands of other inmates and neglect and mistreatment by jail staff. To know the prevalence of mental...

Author(s): Nidhi Goel, Pardeep Khanna, Meena, A. K. Vohra and Ramesh Verma

Immunodetection of Ribin-like proteins in neuron-based cellular models

November 2010

Extensive bibliographical analysis has demonstrated changes in ribin genes expression during several types of stress, especially in neurological tissues or cells during stress inducing neurological disorders. These analyses suggest that Ribin studies could be useful for neurological investigation. The present study was undertaken to detect and localize Ribin in various neuron-based cellular models mimicking...

Author(s): Roxane-Marie Barthélémy, Nadia Jaafari, Pascale Galea, Yvon Julé and Eric Faure

Evidence of association of a common variant of the endothelial nitric oxide synthase gene (Glu298 →Asp polymorphism) to coronary artery disease in South Indian population

November 2010

Genetic variants of endothelial nitric oxide synthase (eNOS) could influence individual susceptibility to coronary artery disease (CAD) with or without association with demographic factors. This study was designed to assess the Glu298 /Asp variant of the eNOS gene in 79 patients with CAD as compared to equal number (79) of controls. The genotype frequencies for eNOS gene polymorphism were determined by PCR and RFLP, and...

Author(s): Rabbani Syed, and Kaiser Jamil,

Effect of paternal age on aneuploidy rates in first trimester pregnancy loss

August 2010

A retrospective cohort analysis of patients undergoing IVF cycles at an academic IVF center was performed to test the hypothesis that male age may influence aneuploidy rates in first trimester pregnancy losses. All patients had a first trimester pregnancy loss followed by evacuation of the pregnancy and karyotyping of the abortus. Couples undergoing anonymous donor oocyte ART cycles (n = 50) and 23 couples with female...

Author(s): Vitaly A. Kushnir, Richard T. Scott and John L. Frattarelli

Endocrine disruption induced by triorganotin (IV) compounds: Impacts in the reproductive and genetic function

August 2010

      Organotin compounds, such as tributyltin (TBT) and triphenyltin (TPT), are typical environmental contaminants and suspected endocrine-disrupting chemicals because they cause irreversible sexual abnormality (masculinization) in female mollusks, called "imposex". However, it remains unclear whether organotin compounds also cause crucial toxicities in mammalian, including in human and...

Author(s): V. S. Delgado Filho, C. N. Mancini, I. V. Silva, D. F. Pedrosa, A. C. Destefani, V. Y. Samoto, C. M. Takiya and J. B. Graceli

Nuclear anomalies in exfoliated buccal epithelial cells of petrol station attendants in Tamilnadu, South India

April 2010

Petroleum derivative consist of a complex mixture of chemical compounds. Petrol station workers who pump fuel to vehicles absorb the products of fuel fumes and the products of combustion. The exposure posses a risk to human health and development of several types of cancers. A total of 120 petrol station workers and 105 control group of individuals in the age group of 17 to 35 years were recruited, a questionnaire based...

Author(s): K. Rajkokila, S. Shajithanoop and M. V. Usharani

Co-inheritance ααα anti 3.7 triplication with hemoglobin D/β0 thalassemia: A case report from South-west Iran

April 2010

Hemoglobin D [Hb D] is the second most common hemoglobin variant in South west of Iran. It places in second position after hemoglobin S. So far up to present, from the genetic point of view, all cases of Hb D are hemoglobin Punjab. Hb D, in all forms, heterozygote, homozygote and compound heterozygote presents with mild anemia or completely asymptomatic that may be discovered accidentally. There was a case presentation...

Author(s): B. Keikhaei, H. Galehdari and B. Salehi

Genotyping CTLA-4 exon 1 (+49 A/G) and HLA-DRB1 polymorphisms and susceptibility to systemic lupus and rheumatoid arthritis in Tunisian population

January 2010

Cytotoxic T lymphocyte antigen 4 (CTLA-4) is a negative regulator of T-cell function, which has been suggested to be involved in a wide-range susceptibility to autoimmune diseases. We sought a probable implication of the CTLA-4 polymorphism (A/G +49) in two autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and its possible interaction with HLA-DRB1 polymorphism....

Author(s): Imen Sfar, Tarak Dhaouadi, Henda Krichen, Asma Elbeldi, Leila Abdelmoula, Mouna Makhlouf, Thouraya Ben Romdhane, Salwa Jendoubi-Ayed, Houda Aouadi, Taieb Ben Abdallah, Khaled Ayed, Rafik Zouari and Yousr Lakhoua-Gorgi

Genome scan meta-analysis in systemic lupus erythematosus strong linkage with loci 6p22.3-p21.1 and 2q31.1-34

January 2010

The genetic contribution to development of system lupus erythematosus (SLE) is well established. Several genome scan studies have identified putative susceptibility loci to SLE. However; they have shown high level of inconsistency. Genome search meta-analysis (GSMA) which is a non-parametric method is used to identify genetic regions that rank high on average in terms of linkage statistics across...

Author(s): Suad AlFadhli, Najla AlKharrat and Ahmid AlRebai

Ruptured spleen in factor XIII deficiency

October 2009

Factor XIII deficiency is a rare bleeding disorder, and spontaneous spleen rapture is not reported in cases of this disorder. We report 2 cases of spontaneous ruptured spleen in 2 young Pakistani boys who were known factor XIII deficiency who were presented at the same time within 24 h. Both cases were recovered and one was successfully treated conservatively while the other treated surgically by spleenectomy. It should...

Author(s): Kakil Ibrahim Rasul, Mohamed Sadiq Ahmed and Abdul-Rahman Zar Gul

Complement receptor 1 gene polymorphisms in Tunisian patients with systemic lupus erythematosus

October 2009

Complement receptor 1 (CR1) is a membrane protein mediating the transport of immune complexes (ICs) to phagocytes, and at least two polymorphisms on the CR1 gene are related to erythrocyte surface density of CR1 molecules, in turn related to the rate of IC clearance from circulation. The aim of the study was to explore whether the polymorphic sites of CR1 gene in exon 22 (His 1208 Arg), and exon 33 (Pro 1827...

Author(s): Imen Sfar, Yousr Gorgi, Tarak Dhaouadi, Lamia Ben Hassine, Houda Aouadi, Mouna Maklouf, Thouraya Ben Romdhane, Saloua Jendoubi-Ayed, Narjess Khalfallah, Adel Kheder, Taieb Ben Abdallah and Khaled Ayed

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