Search Results
Results 201 - 250 of 690
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Arrieta I - - 2003
Fragile X syndrome is associated with an unstable CGG repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene. The present study involved the evaluation of factors implicated in CGG repeat stability in a normal sample from two Basque valleys (Markina and Arratia), to discover ...
Fujii Kenji - - 2003
Exon 1 of the androgen receptor (AR) gene on the X chromosome contains a polymorphic CAG trinucleotide short tandem repeat. We describe here the rapid and reliable method of typing CAG repeats using electrophoresis, with denaturing polyacrylamide gel and an allelic ladder marker. Twenty-one alleles (the repeat number ranges from ...
Li Y-C - - 2003
This study investigated allele size constraints and clustering, and genetic effects on microsatellite (simple sequence repeat, SSR) diversity at 28 loci comprising seven types of tandem repeated dinucleotide motifs in a natural population of wild emmer wheat, Triticum dicoccoides, from a shade vs sun microsite in Yehudiyya, northeast of the ...
Lalioti M D - - 2003
Progressive myoclonus epilepsy 1 (EPM1) or Unverricht-Lundborg disease is a human autosomal recessive neurodegenerative disorder caused by mutations in cystatin B (CSTB). The CSTB gene maps to human chromosome 21 and encodes an inhibitor of lysosomal cysteine proteases. Five point mutations have been found, two of which are seen in ...
Herane Maria I - - 2003
Acne is a disease that can be seen in the first year of age, early childhood, prepubertal age and puberty. Neonatal acne is due mainly to considerable sebum excretion rate, and infantile acne because of high androgens of adrenal origin in girls and of adrenal and testes in boys. These ...
Duarte Stenio F P - - 2003
Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism ...
Subramanian Subbaya - - 2003
Simple sequence repeats (SSRs) are found in most organisms, and occupy about 3% of the human genome. Although it is becoming clear that such repeats are important in genomic organization and function and may be associated with disease conditions, their systematic analysis has not been reported. This is the first ...
Athanasiadis I - - 2002
Kefir granular biomass was used in the fermentation of sweet whey and proved to be more effective compared to single-cell biomass of kefir yeast. The operational stability of the biocatalyst was assessed by carrying out 20 repeated batch fermentations. Levels of ethanol productivity reached 2.57 g L(-1) h(-1)), whereas the ...
Arroyo-García Rosa - - 2002
The use of consensus chloroplast microsatellites primers for dicotyledonous chloroplast genomes revealed the existence of intra and interspecific length variation within the genus Vitis. Three chloroplast microsatellite loci were found to be polymorphic in samples of Vitis vinifera, Vitis berlandieri, Vitis riparia, and Vitis rupestris out of a total of ...
Hwang Il-Ran - - 2002
BACKGROUND & AIMS: Although epidemiological studies suggest that interleukin (IL)-1 genetic polymorphisms are involved in Helicobacter pylori-related gastric carcinogenesis, the data are conflicting regarding the effects of these polymorphisms on IL-1beta production. METHODS: IL-1B-511 polymorphism was genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism, and IL-1RN variable number of ...
Chagnon Pierre - - 2002
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis ...
Zhao Zhongming - - 2002
We investigated substitution patterns and neighboring-nucleotide effects for 2,576,903 single nucleotide polymorphisms (SNPs) publicly available through the National Center for Biotechnology Information (NCBI). The proportions of substitutions were A/G, 32.77%; C/T, 32.81%; A/C, 8.98%; G/T, 9.06%; A/T, 7.46%; and C/G, 8.92%. The two nucleotides immediately neighboring the variable site showed ...
Reed K M - - 2002
Chromosome-specific libraries provide a means to isolate genetic markers from specific chromosomal regions. A small-insert BTA6 library, constructed by microdissection, was screened for dinucleotide repeats (CA)15 and (GA)15. A total of 47 new microsatellite loci were developed and tested for polymorphism and informativeness using the MARC bovine mapping family.
Topisirovic I - - 2002
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG repeat expansion on chromosome 13q21. However, the role of the CTG repeat in SCA8 pathology is not yet well understood. Therefore, we studied the length of the SCA8 CTA/CTG expansions (combined repeats, CRs) in 115 ...
Doyle Olivia - - 2002
We describe the localization of the largest subunit of RNA polymerase II (RPB1) in the oocyte nucleus of Xenopus laevis. A single oocyte nucleus contains 18 lampbrush chromosomes, approximately 1500 extrachromosomal nucleoli, 50-100 Cajal bodies (CBs) and hundreds to thousands of B-snurposomes. CBs contain many factors involved in RNA transcription ...
Yoon Sungpil - - 2002
Previous studies suggested that remodeling of connective tissue is important in progression of atherosclerosis. We investigated the importance of matrix metalloproteinase 13 (MMP13), in the pathogenesis of atherosclerosis using 995 samples from the Pathobiological Determinants of Atherosclerosis in Youth collection in an association study. We identified two new MMP13 promoter ...
Abbruzzese Claudia - - 2002
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK gene on chromosome 19q13.3. We present two siblings with DM1 who each inherited a premutation allele, (CTG)43, stably transmitted from the mother and a full-mutation allele, either (CTG)500 or (CTG)180, derived from ...
Chauhan Chitra - - 2002
Expansion of GAA repeats in the intron of the frataxin gene is involved in the autosomal recessive Friedreich's ataxia (FRDA). The GAA repeats arise from a stretch of adenine residues of an Alu element. These repeats have a size ranging from 7- 38 in the normal population, and expand to ...
Peier Andrea M - - 2002
Fragile X syndrome results from the massive expansion of a CGG repeat in the 5' untranslated region of the gene FMR1. Data suggest that the hyperexpansion properties of FMR1 CGG repeats may depend on flanking cis-acting elements. We have therefore used homologous recombination in yeast to introduce an in situ ...
Heyworth Paul G - - 2002
The p47-phox gene, NCF-1, has 2 nearly identical pseudogenes (psiNCF-1) in proximity at chromosomal locus 7q11.23. A dinucleotide deletion (DeltaGT) at the beginning of exon 2 that leads to a frameshift and premature stop codon is considered the signature sequence of the pseudogenes. It is also the most prevalent mutation ...
Hećimović Silva - - 2002
This study presents the first molecular data on the basis and the origin of Huntington disease in Croatia and is the first such analysis performed among a Slavic population. We analyzed three trinucleotide polymorphisms in the HD gene: CAG, CCG and GAG Delta2642 (E2642del) triplets. Analysis of the CAG repeat ...
Li Y-C - - 2002
Microsatellite (SSR) diversity at 28 loci comprising seven types of tandem dinucleotide repeated motifs was analyzed in 105 individual plants of wild emmer wheat, Triticum dicoccoides, from a microsite in Yehudiyya, northeast of the Sea of Galilee, Israel. The study area was less than 1000 m(2) and involved 12 paired ...
Mongan Nigel P - - 2002
BACKGROUND: The luteinising hormone receptor (LHR) is necessary for the stimulation of androgen production and male genital development. It contains three protein polymorphisms: a leucine and glutamine insertion between codons 8 and 9 (LQ+) and two amino acid substitutions (N291S, N312S). OBJECTIVES: To determine whether these LHR polymorphisms are associated ...
Achaz G - - 2002
We investigated 53 complete bacterial chromosomes for intrachromosomal repeats. In previous studies on eukaryote chromosomes, we proposed a model for the dynamics of repeats based on the continuous genesis of tandem repeats, followed by an active process of high deletion rate, counteracted by rearrangement events that may prevent the repeats ...
Bodin Loys - - 2002
Inheritance of the ovulation rate (OR) in the Lacaune meat breed was studied through records from a small nucleus of 36 hyper-prolific ewes screened on farms on the basis of their natural litter size, and from progeny data of three selected Lacaune sires. These sires were chosen at the AI ...
Morrison Andrew W - - 2002
COCH is not the FMD gene detected in our linkage study; furthermore, COCH and FMD are not allelic. The indications are that FMD is heterogenetic. The linkage analysis points to the possibility of one FMD mutation in one of the neighboring candidate genes on chromosome 14, and, with anticipation, possibly ...
Nie Min - - 2002
The purpose of this study was to investigate whether there was transmission between adults in Chinese families using chromosomal DNA fingerprinting. Plaque samples were obtained from buccal and occlusal surfaces of 11 married couples. The colonization levels of mutans streptococci were estimated as colony-forming units per milliliter, and caries experience ...
Ptashnyk Taras - - 2002
OBJECTIVES: The increasing application of ureterorenoscopy for the treatment of urolithiasis has produced a myriad of different help-tools for stone retrieval. In this study, we compared the retrieval capabilities of different baskets and graspers in ex vivo models and attempted to find the most appropriate tool for stone extraction considering ...
Silveira I - - 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely ...
Bayliss Christopher D - - 2002
Haemophilus influenzae (Hi), an obligate upper respiratory tract commensal/pathogen, uses phase variation (PV) to adapt to host environment changes. Switching occurs by slippage of nucleotide repeats (microsatellites) within genes coding for virulence molecules. Most such microsatellites in Hi are tetranucleotide repeats, but an exception is the dinucleotide repeats in the ...
Fuchs Jörg - - 2002
The binding of GFP-tagged tetracycline repressor (TetR) molecules to chromosomally integrated tetracycline operator (tetO) sequence repeats has been used as a system to study chromosome behaviour microscopically in vivo. We found that these integrated transgenes influence the architecture of yeast interphase nuclei, as chromosomal loci with tandem repeats of exogenous ...
Hiatt Evelyn N - - 2002
Tandem repeat arrays often are found in interstitial (i.e., normally gene-rich) regions on chromosomes. In maize, genes on abnormal chromosome 10 induce the tandem repeats that make up knobs to move poleward on the meiotic spindle. This so-called neocentromere activity results in the preferential recovery, or meiotic drive, of the ...
Nomoto Hiroyuki - - 2002
We herein determined by fluorescence in situ hybridization the chromosomal localization of 2 human genes, BRAL1 and BCAN, both of which belong to the link-module superfamily, i.e. to the same band of chromosome 1q21-23. Further analysis of the genomic organization of BRAL1 and BCAN revealed that the BRAL1 gene was ...
Gu Dongfeng - - 2002
The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with obesity, size at birth, type I diabetes, polycystic ovary syndrome, overgrowth in Beckwith-Wiedemann syndrome and possibly hypertension. We have previously shown that the IGF2 ApaI single nucleotide polymorphism (SNP) associates with ...
Stratikopoulos E E - - 2002
Tandem satellite DNA repeats are often associated with centromeres. In spite of their importance in the organization of the centromere, they do not seem to be broadly conserved among species and their role is still unclear. Here we report the identification of a new 44-bp tandem pericentromeric repeat from the ...
Karamysheva T V - - 2002
Organization of B chromosomes in the Korean field mouse Apodemus peninsulae was analyzed. We painted its metaphase chromosomes with whole and partial chromosome paints generated by microdissection and DOP-PCR. The results of the painting indicated that all B chromosomes contained a large amount of repeated DNA sequences. The repeats could ...
Tabain Marija - - 2002
The appropriateness of using locus equations in a study of voiceless consonants is examined. The consonants investigated are the stops /t k/ and the fricatives /theta s integral/. The slope value of the locus equation, indicating degree of coarticulation in the CV syllable, is compared with electropalatographic (EPG) data on ...
Kraic Ján - - 2002
The reliability of microsatellite analyses for discriminating between plant accessions maintained in collections of genetic resources was tested for 53 accessions of barley, 65 of soybean, 49 of chickpea, and 19 of alfalfa. The specific primer pairs used in this study were based on microsatellite DNA sequences surrounded by perfect ...
Wang Xiaofei - - 2002
The majority of chicken repetitive sequence is nuclear-membrane-associated sequence (CNM), which resides in a large number of microchromosomes (chromosomes 11-39) and is absent from macrochromosomes 1-5, ZW, and some of the intermediate chromosomes 6-10. Two repetitive families, EcoRI/XhoI, are confined to the female-specific W chromosome. The core repeat units of ...
Ladenvall Per - - 2002
We recently identified a polymorphic Sp1 binding site in an enhancer at the tissue-type plasminogen activator (tPA) locus (tPA -7,351C/T), which was associated with vascular tPA release. Subjects homozygous for the -7,351C allele had twice the tPA release rate compared to subjects carrying the -7,351T allele. In this study we ...
Achaz G - - 2001
Complete eukaryote chromosomes were investigated for intrachromosomal duplications of nucleotide sequences. The analysis was performed by looking for nonexact repeats on two complete genomes, Saccharomyces cerevisiae and Caenorhabditis elegans, and four partial ones, Drosophila melanogaster, Plasmodium falciparum, Arabidopsis thaliana, and Homo sapiens. Through this analysis, we show that all eukaryote ...
Morita C - - 2001
OBJECTIVE: To investigate whether a polymorphism(s) or mutation(s) in the tumor necrosis factor receptor II (TNFRII) gene is involved in the pathogenesis of systemic lupus erythematosus (SLE). METHODS: All 10 exons of the TNFRII gene were analyzed by exon-specific polymerase chain reaction-single-strand conformation polymorphism, followed by nucleotide sequencing of exons ...
Schweitzer J K - - 2001
We have investigated meiotic changes in CAG repeat tracts embedded in a yeast chromosome. Repeat tracts undergo either conversion events between homologs or expansion and contraction events that appear to be confined to a single chromatid. We did not find evidence for conversion of tract interruptions or excess exchange of ...
Tsien F - - 2001
Facioscapulohumeral muscular dystrophy (FSHD) has an unusual molecular etiology. In a putatively heterochromatic subtelomeric region of each chromosome 4 homologue (4q35), unaffected individuals have 11 to about 95 tandem copies of a complex 3.3-kb repeat (D4Z4). Most FSHD patients have less than 10 copies at one allelic 4q35. This has ...
Cholfin J A - - 2001
BACKGROUND: Spinocerebellar ataxias are a group of phenotypically and genetically heterogeneous disorders characterized by progressive degeneration of the cerebellum. The expansion of a CAG repeat upstream of the PP2APR55beta gene has been recently reported as a novel cause of a dominantly inherited ataxia (SCA12) in a kindred with limb tremor ...
Saleem Q - - 2001
Chromosome 22 has been implicated in schizophrenia and bipolar disorder in a number of linkage, association and cytogenetic studies. Recent evidence has also implicated CAG repeat tract expansion in these diseases. In order to explore the involvement of CAG repeats on chromosome 22 in these diseases, we have created an ...
Bottini E - - 2001
Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: ...
Houben A - - 2001
A major sequence component of the micro B chromosome of Brachycome dichromosomatica (2 n=4) is the tandem repeat Bdm29, which was found by in situ hybridisation to be distributed along the entire length of the chromosome. A high copy number of this sequence does not occur as a regular feature ...
Karasawa M - - 2001
We investigated the polymorphic CAG-repeat distribution and the X-inactivation status of the human androgen receptor (HUMARA) gene in 58 female Japanese volunteers. Polymerase chain reaction amplification was performed using a fluorescent-dye-labeled primer under conditions specific for GC-rich targets, and fragments were analyzed. To estimate the length of these fragments, FAM-labeled ...
Renwick A - - 2001
We examine length distributions of approximately 6000 human dinucleotide microsatellite loci, representing chromosomes 1-22, from the GDB database. Under the stepwise mutation model, results from theory and simulation are compared with the empirical data. In both constant and expanding population scenarios, a simple single-step model with parameters chosen to account ...
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