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Sardina Jennifer M JM Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine School of Medicine, Orange, - - 2014
Cri-du-chat is a rare congenital syndrome characterized by intellectual disability, severe speech/developmental delay, dysmorphic features, and additional syndromic findings. The etiology of this disorder is well known, and is attributed to a large deletion on chromosome 5 that typically ranges from band 5p15.2 to the short arm terminus. This region ...
Chen Chih-Ping CP Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: - - 2014
To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). A 13-year-old girl was referred to the hospital because of autism, mental retardation, ...
Plaisancie Julie - - 2013
Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cognitive impairment and neurobehavioral manifestations. A Minimal Critical Region corresponding to a 600 kb ...
Zhang Li - - 2013
Trisomy 21 (Down syndrome, DS) is the most common genetic cause of developmental cognitive deficits and the so-called Down syndrome critical region (DSCR) has been proposed as a major determinant for this phenotype. The regions on human chromosome 21 (Hsa21) are syntenically conserved on mouse chromosome 10 (Mmu10), Mmu16, and ...
Verhoeven Willem M A - - 2013
A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short ...
van Beelen E - - 2013
A total of 64 loci for autosomal dominant non-syndromic hearing impairment have been described, and the causative genes have been identified for 24 of these. The present study reports on the clinical characteristics of an autosomal dominantly inherited hearing impairment that is linked to a region within the DFNA60 locus ...
Herrera Victoria L - - 2013
A quantitative trait locus (QTL) linked with ability to find a platform in the Morris Water Maze (MWM) was located on chromosome 17 ( QTL) using intercross between Dahl S and Dahl R rats. We developed two congenic strains, S.R17A and S.R17B introgressing Dahl R-chromosome 17 segments into Dahl S ...
Guerrero R F - - 2012
Sex chromosomes are expected to evolve suppressed recombination, which leads to degeneration of the Y and heteromorphism between the X and Y. Some sex chromosomes remain homomorphic, however, and the factors that prevent degeneration of the Y in these cases are not well understood. The homomorphic sex chromosomes of the ...
Grande Maribel - - 2012
Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage? There was no significant difference in the chromosome abnormality rate between sporadic and recurrent miscarriage but the chromosome abnormality rate increased significantly with maternal age. About 50-70% of non-recurrent miscarriages occur because of a ...
Shaffer Lisa G - - 2012
To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience. Prenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone ...
Trifonov V A - - 2012
Comparative painting has provided a wealth of useful information and helped to reconstruct the pathways of karyotype evolution within major eutherian phylogenetic clades. New data have come from gene localizations, BAC mapping and high throughout sequencing projects that enrich and provide new details of genome evolution. Extensive research on perissodactyl ...
Guo T - - 2012
Chromosomal polymorphism has been reported to be associated with infertility, but its effect on IVF/ICSI-ET outcome is still controversial. To evaluate whether or not chromosomal polymorphism in men plays a role in spermatogenesis and the outcome of IVF/ICSI-ET, we retrospectively analysed 281 infertile couples. Measures included fertilization rate, implantation rate, ...
Fiorentino Francesco - - 2012
PURPOSE OF REVIEW: Embryo assessment is a crucial component to the success of IVF. A high rate of embryos produced in vitro present chromosomal abnormalities and have reduced potential for achieving a viable pregnancy. The use of preimplantation genetic diagnosis by array comparative genomic hybridization, for comprehensive aneuploidy screening of ...
Pokorná Martina - - 2012
In contrast to mammals, birds exhibit a slow rate of chromosomal evolution. It is not clear whether high chromosome conservation is an evolutionary novelty of birds or was inherited from an earlier avian ancestor. The evolutionary conservatism of macrochromosomes between birds and turtles supports the latter possibility; however, the rate ...
Smolock Elaine M - - 2012
Elevated heart rate (HR) is a risk factor for cardiovascular diseases. The goal of the study was to map HR trait in mice using quantitative trait locus (QTL) analysis followed by genome-wide association (GWA) analysis. The first approach provides mapping power and the second increases genome resolution. QTL analyses were ...
Ghoraeian P - - 2012
Chromosomal aneuploidy is a well-known phenomenon in human gametes including spermatozoa. Success rate of fertilisation and implantation in subfertile patients with male factor has always been shown to be very low. We tried to relate the possible impact of sex chromosomal aneuploidy in spermatozoa used for intracytoplasmic sperm injection (ICSI) ...
Al-Asmar Nasser - - 2012
OBJECTIVE: To compare the incidence of chromosomal abnormalities in preimplantation embryos from couples undergoing preimplantation genetic screening (PGS) after previous aneuploid miscarriage after either natural conception (NC) or assisted reproductive technology (ART) versus fertile couples who underwent PGS for sex-linked diseases as a control group. DESIGN: Retrospective study. SETTING: IVF ...
Escudero Marcial - - 2012
• Changes in chromosome number as a result of fission and fusion in holocentrics have direct and immediate effects on the recombination rate. We investigate the support for the classic hypothesis that environmental stability selects for increased recombination rates. • We employed a phylogenetic and cytogenetic data set from one ...
Vialard François - - 2012
We previously reported on the validation of Prenatal BACs-on-Beads(TM) on retrospectively selected and prospective prenatal samples. This bead-based multiplex assay detects chromosome 13, 18, 21 and X/Y aneuploidies and the nine most frequent microdeletion syndromes. We demonstrated that Prenatal BACs-on-Beads(TM) is a new-generation, prenatal screening tool. Here, we describe the ...
Auton Adam A Wellcome Trust Centre for Human Genetics, Oxford , - - 2012
To study the evolution of recombination rates in apes, we developed methodology to construct a fine-scale genetic map from high-throughput sequence data from 10 Western chimpanzees, Pan troglodytes verus. Compared to the human genetic map, broad-scale recombination rates tend to be conserved, but with exceptions, particularly in regions of chromosomal ...
Charlesworth Brian - - 2012
In the putatively ancestral population of Drosophila melanogaster, the ratio of silent DNA sequence diversity for X-linked loci to that for autosomal loci is approximately one, instead of the expected "null" value of 3/4. One possible explanation is that background selection (the hitchhiking effect of deleterious mutations) is more effective ...
Desjardins Michelle K - - 2012
OBJECTIVE: To determine whether evaluation and management of concomitant recurrent pregnancy loss (RPL) factors, followed by close monitoring in the first trimester, improved subsequent live birth rate, in carriers of a structural chromosome rearrangement ascertained on the basis of RPL. DESIGN: Prospective tabulation and analysis of subsequent pregnancy outcomes. SETTING: ...
Revay T - - 2012
Mammalian genome replication and maintenance are intimately coupled with the mechanisms that ensure cohesion between the resultant sister chromatids and the repair of DNA breaks. Although a sister chromatid exchange (SCE) is an error-free swapping of precisely matched and identical DNA strands, repetitive elements adjacent to the break site can ...
Mounsey Kate E - - 2012
ABSTRACT: BACKGROUND: The lack of genomic data available for mites limits our understanding of their biology. Evolving high-throughput sequencing technologies promise to deliver rapid advances in this area, however estimates of genome size are initially required to ensure sufficient coverage. METHODS: Quantitative real-time PCR was used to estimate the genome ...
Betrán Esther - - 2012
We look at sex-limited chromosome (Y or W) evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted ...
Martina Mariana A - - 2012
Different studies have suggested that mutation rate varies at different positions in the genome. In this work we analyzed if the chromosomal context and/or the presence of GATC sites can affect the frameshift mutation rate in the Escherichia coli genome. We show that in a mismatch repair deficient background, a ...
Muñoz M - - 2011
Studies of the variation in recombination rate across the genome provide a better understanding of evolutionary genomics and are also an important step towards mapping and dissecting complex traits in domestic animals. With the recent completion of the porcine genome sequence and the availability of a high-density porcine single nucleotide ...
Sheridan William F - - 2011
Eight Activator (Ac) transposable elements mapped to the maize chromosome arm 1S were assessed for Ac transposition rates. For each of the Ac stocks, plants homozygous for the single Ac element and the Ds reporter r1-sc:m3 on chromosome 10 were crossed as females by a homozygous r1-sc:m3 tester color-converted W22 ...
Hirota Tomomitsu - - 2011
Bronchial asthma is a common inflammatory disease caused by the interaction of genetic and environmental factors. Through a genome-wide association study and a replication study consisting of a total of 7,171 individuals with adult asthma (cases) and 27,912 controls in the Japanese population, we identified five loci associated with susceptibility ...
He J H - - 2011
The intersubspecific hybrids of autotetraploid rice has many features that increase rice yield, but lower seed set is a major hindrance in its utilization. Pollen sterility is one of the most important factors which cause intersubspecific hybrid sterility. The hybrids with greater variation in seed set were used to study ...
Behjati Farkhondeh - - 2011
Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 ...
Movafagh Abolfazl - - 2011
Double minute chromosomes (DMs) are small chromatin bodies consisting of gene amplification in an extrachromosomal location. Although found in an variety of human tumor cells, their presence in hematologic malignancies is rare and their role in leukemogenesis is controversial. However, they are thought to be involved in tumorigenesis and in ...
Mason Annaliese S - - 2011
Unreduced gametes (gametes with the somatic chromosome number) may provide a pathway for evolutionary speciation via allopolyploid formation. We evaluated the effect of genotype and temperature on male unreduced gamete formation in Brassica allotetraploids and their interspecific hybrids. The frequency of unreduced gametes post-meiosis was estimated in sporads from the ...
Qu Conghui - - 2011
We describe a statistical approach to predict gender-labeling errors in candidate-gene association studies, when Y-chromosome markers have not been included in the genotyping set. The approach adds value to methods that consider only the heterozygosity of X-chromosome SNPs, by incorporating available information about the intensity of X-chromosome SNPs in candidate ...
Jagger L J - - 2011
Stripe rust resistance in the German winter wheat cv. Alcedo has been described as durable, the resistance having remained effective when grown extensively in Germany and Eastern Europe between 1975 and 1989. Genetic characterisation of field resistance in a cross between Alcedo and the stripe rust susceptible UK winter wheat ...
Raman Harsh - - 2010
Aluminium (Al3+) toxicity restricts productivity and profitability of wheat (Triticum aestivum L.) crops grown on acid soils worldwide. Continued gains will be obtained by identifying superior alleles and novel Al3+ resistance loci that can be incorporated into breeding programs. We used association mapping to identify genomic regions associated with Al3+ ...
Ma Lu - - 2010
We investigated by fluorescence in situ hybridization (FISH) the synteny between Brachypodium distachyon with a small genome (1C = 320 Mb) and barley with a large genome (1C = 5,100 Mb) at the chromosome level. Reciprocal genomic in situ hybridization (GISH) between B. distachyon and barley labeled mainly 45S ribosomal ...
Ishii Takayoshi - - 2010
Wide crossing is one of a number of practical methods that can be used to expand genetic variation in common wheat (Triticum aestivum). However, in crosses between wheat and distantly related species such as maize (Zea mays) and pearl millet (Pennisetum glaucum), non-wheat chromosomes are often eliminated from the hybrid ...
Dadkhodaie N A - - 2011
The rust resistance genes Lr53 and Yr35, transferred to common wheat from Triticum dicoccoides, were reported previously to be completely linked on chromosome 6B. Four F (3) families were produced from a cross between a line carrying Lr53 and Yr35 (98M71) and the leaf rust and stripe rust susceptible genotype ...
Jia Haiyan - - 2011
Fusarium head blight (FHB), primarily caused by Fusarium graminearum, reduces grain yield and quality in barley. Resistance to FHB is partial and quantitatively inherited. Previously, major FHB resistant QTL were detected on barley chromosome 2H Bin 8 and 2H Bin 10, and another QTL for reduced deoxynivalenol (DON) accumulation was ...
Simons Kristin - - 2011
Wheat stem rust caused by Puccinia graminis f. sp. tritici, can cause significant yield losses. To combat the disease, breeders have deployed resistance genes both individually and in combinations to increase resistance durability. A new race, TTKSK (Ug99), identified in Uganda in 1999 is virulent on most of the resistance ...
Zhang Xiuli - - 2011
The leaf rust resistance gene Lr19 and Fusarium head blight (FHB) resistance quantitative trait loci (QTL) derived from the wild wheatgrass Lophopyrum ponticum have been located on chromosome 7E. The main objectives of the present study were to develop a genetic map of chromosome 7E and map the two resistance ...
Jiang Qiyan - - 2011
Sucrose synthase catalyzes the reaction sucrose + UDP → UDP-glucose + fructose, the first step in the conversion of sucrose to starch in endosperm. Previous studies identified two tissue-specific, yet functionally redundant, sucrose synthase (SUS) genes, Sus1 and Sus2. In the present study, the wheat Sus2 orthologous gene (TaSus2) series was isolated and mapped on chromosomes ...
Kumari Sanju - - 2010
Brown planthopper (Nilaparvata lugens Stål) is one of the major insect pests of rice. A Sri Lankan indica rice cultivar Rathu Heenati was found to be resistant to all biotypes of the brown planthopper. In the present study, a total of 268 F(7) RILs of IR50 and Rathu Heenati were ...
Schubert V - - 2011
Classical neocentromeres, proven mainly in Poaceae species, cause meiotic drive in higher plants. Here I present data indicating that the morphological stretching of a chromatin domain at the long arm of Aegilops markgrafii chromosome E during meiosis is not due to a supposed neocentric activity. The stretching is visible at ...
Burt C - - 2011
Eyespot is an economically important fungal disease of wheat and other cereals caused by two fungal species: Oculimacula yallundae and Oculimacula acuformis. However, only two eyespot resistance genes have been characterised and molecular markers made available to plant breeders. These resistances are Pch1, introduced into wheat from the relative Aegilops ...
Quraishi Umar Masood - - 2011
Grain dietary fiber content in wheat not only affects its end use and technological properties including milling, baking and animal feed but is also of great importance for health benefits. In this study, integration of association genetics (seven detected loci on chromosomes 1B, 3A, 3D, 5B, 6B, 7A, 7B) and ...
Gutiérrez Osman A - - 2010
Molecular markers closely linked to genes that confer a high level of resistance to root-knot nematode (RKN) [Meloidogyne incognita (Kofoid & White) Chitwood] in cotton (Gossypium hirsutum L.) germplasm derived from Auburn 623 RNR would greatly facilitate cotton breeding programs. Our objectives were to identify simple sequence repeat (SSR) markers ...
Wang M J - - 2010
A series of expressed sequence tags-derived polymerase chain reaction (EST-PCR) markers specific to chromosome 2Ai#2 from Thinopyrum intermedium were developed in this study using a new integrative approach. The target alien chromosome confers high resistance to barley yellow dwarf virus (BYDV), which is a severe virus disease in wheat. To ...
Wiebe K - - 2010
Some durum wheat (Triticum turgidum L. var durum) cultivars have the genetic propensity to accumulate cadmium (Cd) in the grain. A major gene controlling grain Cd concentration designated as Cdu1 has been reported on 5B, but the genetic factor(s) conferring the low Cd phenotype are currently unknown. The objectives of ...
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