Healthy carrier parents in partial 7 and 9 chromosome trisomy in two pediatric patients: Report cases at the Hospital para el Niño Poblano, Mexico
August 2010
Two pediatric cases are reported in this study, a one year and five months old male patient with partial trisomy for the long arm of chromosome 9 due to chromosome segregation error in the father 46 XY, del (9q-)/46 XY dup (10q+), and a seven years old male patient with partial trisomy for the long arm of chromosome 7 due to chromosome segregation error in the mother 46 XX, ins (10; 7) (q21; q23q35) are...
Interleukin-1b gene polymorphism and its association with chronic periodontitis in South Indian population
August 2010
Interleukin-1 beta (IL-1b) is a potent inflammatory mediator and an important polymorphism in the locus +3954 (C/T) of the human IL1B gene has been shown to affect the levels of this cytokine. This functional polymorphism has been associated with the establishment of inflammatory diseases, including periodontal disease, in European, Asian and North American populations. The aim of this study was to...
Molecular phylogeny of Bulinus (Gastropoda: Planorbidae) reveals the presence of three species complexes in the Albertine Rift freshwater bodies
July 2010
In this study, partial mitochondrial DNA cytochrome oxidase subunit I (mtCOI) sequences (612 bp) of Bulinus snails sampled from 31 freshwater bodies in the Albertine Rift were analyzed to investigate the extent of genetic variation and phylogenetic relationships. Bayesian phylogenetic inferences clustered the samples into three species groups;Bulinus truncatus/ tropicus, Bulinus...
Iron starvation induces expression of a putative xylanase gene in Salmonella enterica subsp. enterica serovar Enteritidis mini-transposon5 lacZ1 mutants
July 2010
In this study, Salmonella enterica subsp. enterica serovar Enteritidis mini-transposon5 lacZ1 mutant strains induced under iron starvation were analyzed. Inverse polymerase chain reaction (IPCR) was used to isolate iron starvation-induced DNA fragments upstream of mini-Tn5 (containing a promoter-less lacZ gene) insertion in S. entericasubsp. enterica serovar...
The frequency of Y chromosome microdeletions in infertile men from Chennai, a South East Indian population and the effect of smoking, drinking alcohol and chemical exposure on their frequencies
July 2010
The aims of the study were to estimate the frequency of Y chromosome microdeletion in infertile men from a new geographical ethnic region, Chennai, South East India, to explore the effect of smoking, alcohol drinking, chemical exposure and cellular chromosomal aberration on the frequency of infertility in 34 azoospermia and 55 oligospermia patients. The frequency of Y chromosome microdeletion was estimated...
Deletion of derivative ABL, BCR or ABL-BCR fusion gene is associated with shorter disease free survival in CML patients
July 2010
Chronic myeloid leukemia (CML) is characterized by formation of the BCR/ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22. However, deletions of the derivative 9 chromosome [der (9)] in10 - 15% of CML patients with a standard Ph translocation as well as > 30% of CML patients with a variant Ph translocation may have verse prognosis....
Colorectal cancer, TGF-β signaling and SMADs
June 2010
Colorectal cancer (CRC) being the commonest cancer, is the major cause of mortality and morbidity worldwide. TGF-β pathway is one of the important pathways that play a prominent role in cell proliferation, differentiation, migration and apoptosis. Smad dependent TGF-β signaling cascade is responsible for the regulation and expression of almost 500 odd genes, which in turn play...
Allozyme variations in leaf esterase and root peroxidase isozymes and linkage with dwarfing genes in induced dwarf mutants of grass pea (Lathyrus sativus L.)
June 2010
Genetic basis of different leaf esterase and root peroxidase isozymes was investigated by analyzing their zymogram phenotypes in selfed and intercrossed progenies of two local varieties (used as control) and three induced true breeding dwarf mutant lines of grass pea (Lathyrus sativus L.). Two non-allelic genes, df1/df2 and df3 controlling dwarfism in grass pea were...
Lack of DLAD mutations in age-related nuclear cataract
June 2010
DNase II like acid DNase (DNase IIβ, DLAD) is expressed in human and murine cells in the lens. Studies in mice have reported that abnormal degeneration of cellular organelles by DLAD reduced lens transparency and that the DLAD gene may be involved in cataract formation. The aim of the present study was to search for possible genetic alterations in the DLAD gene in human senile...
A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation
June 2010
In the present study, the authors reported a family of a male proband with prelingual, profound non-syndromic hearing impairment homozygous for p.W24X mutation in GJB2gene, arising as a result of maternal uniparental disomy of a part of chromosome 13q. Key words: Hearing impairment, p.W24X mutation, uniparental disomy.
Lack of association between - 308 tumor necrosis factor polymorphism and susceptibility to cerebral malaria among Central Sudanese children
May 2010
Up to 500 millions are affected by malaria parasite each year and only 1% of them develop severe clinical forms of the disease. No full satisfactory explanation for the fact that only small proportion of malaria infected individuals develops severe clinical phenotypes while others don’t. The aims of the present study is to assess the role of TNF-α - 308 G>A in predisposing to cerebral malaria...
Theileria parva genome and CTL candidate vaccine antigens: An overview
May 2010
The availability of complete genome sequences for a variety of organisms, coupled with genome-wide analyses that allow evaluation of the functions of thousands of genes in parallel, have the potential to greatly impact on cell biology research. The lymphocyte-transforming Theileria parva parasite nuclear genome (8.3 Mbp in length consisting of four chromosomes) available in GenBank reveals...
Physical properties and biological applications of novel substituted biphenyl-sulfonamides
May 2010
This study explores the effect of the structural change of novel sulfonamide based-surfactants on the surfactant’s behavior and antimicrobial activity. In order, to meet this as our primary goal, three different series, biphenyl-4,4'-disulfonamides (Series A, A1-4), amine acid salts of 2,2`-[biphenyl-4,4'-diylbis(sulfonylimine)] dianiline (Series B, B1-4) and their corresponding copper and...
Genetic variation within and among three invasive Prosopis juliflora (Leguminosae) populations in the River Nile State, Sudan
May 2010
The species of Prosopis (Leguminosae) are trees or shrubs well adapted to grow in arid and semi arid regions. In Sudan Prosopis juliflora was introduced in 1917. Currently, it has become a noxious weed spreading aggressively in natural and managed habitats. The structure of genetic diversity within and among P. juliflora populations infesting three forests in the River Nile State...
Sequence variability in the BLB2 region among guinea fowl and other poultry species
April 2010
The BLB2 gene is a predominantly expressed MHC class II gene in chicken and has not been characterized in guinea fowl. In view of the resistance of guinea fowl to most of the chicken diseases, nucleotide sequence variability in b1 and b2 domains of BLB2 gene was studied between guinea fowl and other poultry species such as chicken, quail, pheasant and duck. The b1 and b2 domain of BLB2...
Amplification and sequencing of Rosaceae expressed sequence tags (ESTs) as a resource for functional genomics databases
April 2010
A total of 30 successful ESTs (expressed sequenced tags) were amplified and sequenced to be intended as a resource for Rosaceae functional genomics data base. 23 EST were isolated from the amplification of Earlygold peach (Prunus persica) cultivar DNA, 5 ESTs were isolated from the amplification of Texas almond cultivar and two ESTs were isolated from the amplification of F1 DNA of their...
Rapid detection of Salmonella species in newborne calves by polymerase chain reaction
April 2010
Fecal samples collected from 85 diarrheic calves and 65 apparently healthy contact calves were examined for the presence of Salmonella species using bacteriological examination and fimA gene amplification assay (PCR). Salmonella were isolated from 43.53% of diarrheic calves and from 27.69% of apparently healthy contact calves.Salmonella typhimurium were isolated from...
Inheritance of resistance to septoria tritici blotch (STB) in some Iranian genotypes of wheat (Triticum aestivum L.)
March 2010
Septoria tritici blotch (STB), caused by Mycosphaerella graminicola (anamorph S. tritici) is currently the most serious foliar disease of wheat worldwide. Understanding of mechanisms for resistance inheritance in genotypes would potentially lead to more efficient deployment of host plant resistance. As part of our effort to improve STB resistance, inheritance of seedling STB resistance was...
MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers
March 2010
Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their...
Plasma sodium and potassium changes in sickle cell patients
February 2010
The aim of this study was to measure the body electrolytes (in plasma) such as sodium (Na+) and potassium (k+) in adult sickle cell patients with genotype (Hb SS) genotype and compare with controls normal with (Hb AA) genotype. The study involved a total of 38 individuals, both males and females in the age range of 16 - 40 years. There were 3 study groups; steady state group, crisis state group and control...
Ribin-like proteins expression in the chaetognath Spadella cephaloptera
February 2010
In chaetognaths, a marine phylum of approximately 120 species, paralogous ribosomal protein genes and two classes of both 18S and 28S rRNA gene sequences have been evidenced. Moreover, differential and specific expression of the rRNA genes has been demonstrated suggesting implications of regulatory mechanisms in the synthesis of the ribosome constituents. Results of in...
Genetic polymorphism of kappa-casein gene in indigenous Eastern Africa goat populations
January 2010
Indigenous goat breeds kept by majority of smallholder rural farmers in Eastern Africa are adapted to the local environment. These goats are critical for nutrition and income of their keepers. Milk production per doe is extremely variable. The variation in milk yield in goats is due to varied management practices and variability in genetic make-up of the animals. The variation in kappa-casein gene and the distribution...
Genotyping of tamoxifen metabolizing enzyme (CYP2D6*4) and its clinical impact in breast cancer patients
January 2010
Tamoxifen is a non-steroidal antiestrogen drug widely used in the treatment of breast cancer and metabolized by CYP2D6. In this study, we compared the patients who were receiving either tamoxifen or other chemo drugs, forming a two-arm study. We genotyped 140 tamoxifen treated postmenopausal women with breast cancer, 140 non-tamoxifen treated pre and postmenopausal women with breast cancer and 124 controls,...
Estimation of heritability and genetic advance of yield traits in wheat (Triticum aestivum L.) under drought condition
October 2009
Four varieties/lines of wheat and their crosses namely, Sakha8 , Sids1, line 1 Line3 and Line1x Sakha8, Line3x Sakha8, Line1x Sids1, Line3x Sids1 were evaluated to estimate heritability and genetic advance for yield traits. The experimental material was planted under irrigation as well as drought stress conditions. The mean average for plant height, spike length, number of spikes per plant, number of grains...
Mapping Rf3 locus in rice by SSR and CAPS markers
October 2009
Cytoplasmic male sterility (CMS) is a common phenomenon that has been extensively used for production of hybrid seeds in various crops. Rf genes are needed for restoring fertility to CMS lines. Searching for and molecular tagging of restorer genes is of high importance where phonotyping is very time consuming and requires the determination of spikelet sterility in testcross progeny. In...
Monogenic lines resistance to blast disease in rice (Oryza sativa l.) in Vietnam
October 2009
Blast, caused by Pyricularia grisea Cav., is one of the major fungal diseases infected rice (Oryza sativa L.) in Vietnam. This disease occurs in Vietnam which cause the yield loss of up to 20% particularly in a year with long wet season. Local varieties have been considered as genetic sources of disease resistance among crops. The breeding program was aimed at improvement of blast...
Molecular assessment of Ficus species for identification and conservation
September 2009
Ficus L. is widely distributed in all the climatic stages and is of great diversity. Molecular marker is used for identification of genetic resources. Inter-simple Sequence Repeat (ISSR) markers was used to assess the identification of 23 important Ficus species / varieties and determination of the genetic relationships among these species. Out of twenty one ISSR primers tested, five primers produced 116 detectable...
Full currarino syndrome associated to elhers danlos. One patient report at the hospital para El niño poblano Mexico
September 2009
The Currarino triad described in 1981 involves the association of partial sacral agenesis with intact first sacral vertebra (sickle-shaped sacrum), a presacral mass, and anorectal malformation. Gene map locus 7q36, some cases of this syndrome are caused by mutation in the HLXB9 homeobox gene and dominant inheritance has been observed. The patient in this study was diagnosed as Full Currarino syndrome, with the clinical...
Antioxidants/antioxidative agents and superoxide: An electrochemical monitoring device
September 2009
A simple but elegant electrochemical (cyclic voltammetric) device was developed to detect antioxidative property of various substances (pure compounds, extracts of spices etc.). It was employed to investigate the presence of antioxidants / antioxidative agents, in some common herbal and medicinal plant products, for example saffron, clove, herbal tea etc. The concentration of such substances showing antioxidative...
Designing polymorphic ISSR primers in order to study x and y types glutenin subunits in 1D locus controlling favorable baking quality of bread wheat
August 2009
Baking quality is one of most important traits in qualitative improvement of bread wheat. Gluten prolamins determine wheat flour quality for different technological processes such as bread making. Among the gluten proteins, High Molecular Glutenin (HMW) group and specially, x-type and y-type subunits of d allele in 1D locus are very valuable in baking quality. In this study, amino acid sequences of x-type...
Somaclonal variation in submergence tolerant rice cultivars and induced diversity evaluation by PCR markers
August 2009
Submergence tolerance is an important agronomic trait for rice grown in eastern India; where flash flooding occurs frequently and unpredictably during the monsoons. Generation of somaclones for the two submergence tolerant rice cultivar FR13A and FR43B through gamma irradiation and molecular analysis of the somaclones for the variation in the pyruvate decarboxylase (pdc) gene was investigated. FR43B...
A cold-inducible modifier QTL affecting fertility restoration of WA CMS in rice
August 2009
The inheritance of pollen fertility restoration in 2 F2 populations of cross Neda-A X IR36, was studied in normal and cold conditions by means of QTL method. In cold condition the number of fertile plants was reduced in favor of sterility. The distributions of individuals in pollen fertility suggested that fertility restoration was mainly controlled by major genes. The population cultivated in normal...
Nutritional and therapeutic properties of camel and human milks
July 2009
Camel and human milk samples (twenty individuals’ samples each) were analysed for fat, total protein (casein, whey protein), lactose, minerals as well as vitamins; B1, B2, niacin and C. Meanwhile, amino and fatty acid compositions and, antimicrobial factors namely; lysozyme (LZ), lactoferrin (LF) and total immunoglobulins (Igs) were determined. Results indicated that camel milk contained higher fat,...
Corticosteroid binding globulin and glucocorticoid receptor genotypes influence body composition in a male population
July 2009
Glucocorticoid Receptor (GR) polymorphisms have been repeatedly associated with obesity and metabolic parameters in man. We have previously shown the genetic influence of a polymorphism in the gene encoding CBG on some obesity parameters in a small female population. In this study we have explored possible genetic associations between obesity and metabolic measures and CBG or GR polymorphisms in a new male...
Low-cost method for streamlining marker-assisted selection and breeding line development in rice (Oryza sativa L.)
July 2009
Simple and economical microsatellite marker detection is important for successful and widespread adoption of marker technology in various breeding programs. A non-automated but fast, reliable and cost effective protocol for microsatellite marker detection is described that requires only standard molecular laboratory equipment. The protocol consists of a leaf sampling method for 96-well plates, tissue grinding...
An environmentally induced adaptive (?) insertion event in flax
June 2009
Genomic changes in flax induced by the environment include the sequences encoding the ribosomal RNAs, many repetitive sequence families and a novel single copy insertion termed LIS-1, comprising a 5.7 kilobase (kb) DNA fragment. The variation in these sequences has been followed in the flax variety Stormont Cirrus under four different growth conditions. LIS-1 was observed to always become both homozygous and inherited...
Associations between prolactin gene polymorphism and milk production in montebeliard cows
June 2009
Prolactin (PRL) is one of the multi-purpose hormones of the pituitary gland in terms of biological actions especially milk production. In this study associations were analyzed between polymorphisms of the prolactin gene (PRL-RsaI) and milk production traits of Montebeliard cows. PCR-RFLP method was used for identification of genotypes. Frequencies of genotypes were 0.81, 0.15 and 0.04 for A/A, A/B and B/B,...
Study of proteinase activity of Lactobacillus plantarum NCIM 2083
April 2009
Lactobacilli are important organisms used in several lactic acid fermentations. Lactobacilli cultured in milk perform activities like breaking down of lactose to simple sugars, proteolysis, lipolysis and lactic acid production. Lactobacillusdepends on proteolytic system for degradation of protein – casein in milk from which they get their complex nutrient requirements for growth. This complex proteolytic...
Delineation of pona complex of yam in Ghana using SSR markers
April 2009
Yam (Dioscorea spp.), a multi-species, polyploid, and vegetatively propagated tuber crop, is cultivated widely in the tropics and subtropics. Over 95% of the world’s yam production occurs in West and Central Africa where white yam (Dioscorea rotundata Poir.) is the most important among cultivated species. The most popular landrace cultivar of yams on the market in Ghana is called ‘Pona’....
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