Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.UtahConsanguinity: The magnitude of INBREEDING in humans.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genealogy and HeraldryNuclear Family: A family composed of spouses and their children.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Hip Dysplasia, Canine: A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Genetic Variation: Genotypic differences observed among individuals in a population.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Family: A social group consisting of parents or parent substitutes and children.Multifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Paternity: Establishing the father relationship of a man and a child.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Optic Atrophy, Hereditary, Leber: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man,, MIM#535000 (April 17, 2001))Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Heterozygote Detection: Identification of genetic carriers for a given trait.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Amish: An ethnic group with shared religious beliefs. Originating in Switzerland in the late 1600s, and first migrating to the mid-Atlantic, they now live throughout Eastern and Mid-Western United States and elsewhere. Communities are usually close-knit and marriage is within the community.Homozygote: An individual in which both alleles at a given locus are identical.Palau: A republic consisting of a group of about 100 islands and islets in the western Pacific Ocean. Its capital is Koror. Under Spain it was administered as a part of the Caroline Islands but was sold to Germany in 1899. Seized by Japan in 1914, it was taken by the Allies in World War II in 1944. In 1947 it became part of the U.S. Trust Territory of the Pacific Islands, became internally self-governing in 1980, obtained independent control over its foreign policy (except defense) in 1986, and achieved total independence October 1, 1994. (Webster's New Geographical Dictionary, 1988, p915; telephone communication with Randy Flynn, Board on Geographic Names, 17 January 1995)Markov Chains: A stochastic process such that the conditional probability distribution for a state at any future instant, given the present state, is unaffected by any additional knowledge of the past history of the system.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Heredity: The transmission of traits encoded in GENES from parent to offspring.Probability: The study of chance processes or the relative frequency characterizing a chance process.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Syndrome: A characteristic symptom complex.Monte Carlo Method: In statistics, a technique for numerically approximating the solution of a mathematical problem by studying the distribution of some random variable, often generated by a computer. The name alludes to the randomness characteristic of the games of chance played at the gambling casinos in Monte Carlo. (From Random House Unabridged Dictionary, 2d ed, 1993)Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Optic Atrophies, Hereditary: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Adult Children: Children who have reached maturity or the legal age of majority.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Corneal Dystrophies, Hereditary: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.Anticipation, Genetic: The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Eye ProteinsChromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Larix: A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.Pinus taeda: A plant species of the genus PINUS which is the subject of genetic study.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Duane Retraction Syndrome: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.Brachial Plexus Neuritis: A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)Malignant Hyperthermia: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Azores: A group of nine islands and several islets belonging to Portugal in the north Atlantic Ocean off the coast of Portugal. The islands are named after the acores, the Portuguese for goshawks, living there in abundance. (Webster's New Geographical Dictionary, 1988, p102 & Room, Brewer's Dictionary of Names, 1992, p42)Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Animals, Domestic: Animals which have become adapted through breeding in captivity to a life intimately associated with humans. They include animals domesticated by humans to live and breed in a tame condition on farms or ranches for economic reasons, including LIVESTOCK (specifically CATTLE; SHEEP; HORSES; etc.), POULTRY; and those raised or kept for pleasure and companionship, e.g., PETS; or specifically DOGS; CATS; etc.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Schizophrenia, Catatonic: A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture.Bipolar Disorder: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.

Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. (1/15278)

Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ontogenic events, from the ureteral budding to the expansive growth of the kidney and ureter.  (+info)

Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. (2/15278)

Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestations before 30 years of age. Unlike adult haemochromatosis which principally affects men, juvenile haemochromatosis affects the sexes equally; it causes early endocrine failure, dilated cardiomyopathy and joint disease. We report four patients (two of each sex) from three pedigrees affected by juvenile haemochromatosis with a mean onset at 22 years (range 14-30). All had endocrine deficiency with postpubertal gonadal failure secondary to pituitary disease; two suffered near-fatal cardiomyopathy with heart failure. Mean time to diagnosis from the first clinical signs of disease was 9.8 years (range 0.5-20) but general health and parameters of iron storage responded favourably to iron-depletion therapy. A 24-year-old man listed for heart transplantation because of cardiomyopathy [left ventricular (LV) ejection fraction 16%] responded to intravenous iron chelation with desferrioxamine combined with phlebotomy (ejection fraction 31%). A 27-year-old woman with subacute biventricular heart failure refractory to medication required orthotopic cardiac transplantation before the diagnosis was established (LV ejection fraction 25%). Genetic studies showed that these two patients with cardiomyopathy from unrelated families were heterozygous for the HFE 845G-->A (C282Y) mutation and wild-type at the H63D locus: complete sequencing of the intron-exon boundaries and entire coding sequence of the HFE gene failed to identify additional lesions. Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. Juvenile haemochromatosis is thus a genetically heterogenous disorder distinct from the common adult variant.  (+info)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (3/15278)

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.  (+info)

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. (4/15278)

Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells.  (+info)

Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. (5/15278)

OBJECTIVE: To develop diagnostic criteria for a familial form of antiphospholipid antibody syndrome (APS), identify families with >1 affected member, examine possible modes of inheritance, and determine linkage to potential candidate genes. METHODS: Family members of probands with primary APS were analyzed for clinical and laboratory abnormalities associated with APS. Families with > or =2 affected members were analyzed by segregation analysis and typed for candidate genetic markers. RESULTS: Seven families were identified. Thirty of 101 family members met diagnostic criteria for APS. Segregation studies rejected both environmental and autosomal recessive models, and the data were best fit by either a dominant or codominant model. Linkage analysis showed independent segregation of APS and several candidate genes. CONCLUSION: Clinical and laboratory criteria are essential to identify the spectrum of disease associated with APS. We believe a set of criteria was developed that can precisely define affected family members with APS. Modeling studies utilizing these criteria strongly support a genetic basis for disease in families with APS and suggest that a susceptibility gene is inherited in an autosomal dominant pattern. However, in these families, APS was not linked with HLA, Fas, or other candidate genes, including beta2-glycoprotein 1, HLA, T cell receptor beta chain, Ig heavy chain, antithrombin III, Fas ligand, factor V, complement factor H, IgK, and Fas.  (+info)

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (6/15278)

Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in microsomal glucose 6-phosphate (G6P) transport, causing a loss of glucose-6-phosphatase activity and glucose homeostasis. However, for decades, this disorder has defied molecular characterization. In this study, we characterize the structural organization of the G6P transporter gene and identify mutations in the gene that segregate with the GSD-1b disorder. We report the functional characterization of the recombinant G6P transporter and demonstrate that mutations uncovered in GSD-1b patients disrupt G6P transport. Our results, for the first time, define a molecular basis for functional deficiency in GSD-1b and raise the possibility that the defective G6P transporter contributes to neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD-1b patients.  (+info)

Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo. (7/15278)

Hemoglobin Providence Asn and Hemoglobin Providence Asp are two abnormal hemoglobins which apparently arise from a single genetic change that substitutes asparagine for lysine at position 82 (EF6) in the beta chain of human hemoglobin. The second form appears to be thr result of a partial in vivo deamidation of the asparagine situated at position beta 82. Cellulose acetate and citrate agar electrophoresis of hemolysates from patients with this abnormality shows three bands. Globin chain electrophoresis at acid and alkaline pH shows three beta chains. These three chains correspond to the normal beta A chain and two abnormal beta chains. Sequence analysis indicates that the two abnormal chains differ from beta A at only position beta 82. In the two abnormal chains, the residue which is normally lysine is substituted either by asparagine or by aspartic acid. These substitutions are notable because beta 82 lysine is one of the residues involved in 2,3-diphosphoglycerate binding. Additionally, beta 82 lysine is typically invariant in hemoglobin beta chain sequences. Sequence data on the two forms of Hemoglobin Providence are given in this paper. The functional properties of these two forms are described in the next paper.  (+info)

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. (8/15278)

The activity of the aromatase enzyme, which converts androgens into oestrogens and has a major role in regulating oestrogen levels in the breast, is thought to be a contributing factor in the development of breast cancer. We undertook this study to assess the role of constitutional genetic variation in the human aromatase gene (Cyp19) in the development of this disease. Our genotyping of 348 cases with breast cancer and 145 controls (all Caucasian women) for a published tetranucleotide repeat polymorphism at intron 4 of the Cyp19 gene revealed the presence of six common and two rare alleles. Contingency table analysis revealed a significant difference in allelic distribution between cases and controls (chi2 5df = 13.52, P = 0.019). The allele measuring 171 bp was over-represented in cases; of 14 individuals homozygous for this allele, 13 were cases. These individuals had a higher incidence of cancer in family members and an earlier age at diagnosis than other cases. In sequencing Cyp19's coding exons and regulatory regions, we discovered a perfect association between a silent polymorphism (G-->A at Val80) and the high-risk genotype. Our conclusion is that constitutional genetic variation at the Cyp19 locus is associated with the risk of developing breast cancer, with the 171-bp allele serving as the high-risk allele.  (+info)

  • Age-at-onset distributions (or equivalently, hazard rates) in respect of inherited disorders are often estimated from pedigrees, which are life histories with unusually complex covariates, as well as strong dependencies induced by shared genes. (
  • The use of pedigree analysis has been an important discriminator in classifying the various hereditary retinal disorders. (
  • In England and Wales pedigrees are officially recorded in the College of Arms , which has records going back to the Middle Ages, including pedigrees collected during roving inquiries by its heralds during the sixteenth and seventeenth centuries. (
  • Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. (
  • The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane or because such a mark was used to denote succession in pedigree charts . (
  • Pedigrees continue to be registered at the College of Arms and kept up to date on a voluntary basis but they are not accessible to the general public without payment of a fee. (
  • We propose a very general MPP model of a pedigree, including presymptomatic genetic testing, (the full model¿) and show under what circumstances the partial model leading to Elston's likelihood is valid. (
  • Pedigree + Healthy digestion is slightly higher in protein and has about twice as much fat on a dry matter basis as canine i/d does. (
  • More visible, therefore, are the pedigrees recorded in published works, such as Burke's Peerage and Burke's Landed Gentry in the United Kingdom and, in continental Europe by the Almanach de Gotha . (
  • Dec. 3, 2019 /PRNewswire/ -- PEDIGREE Foundation envisions a world where all dogs have a loving home. (
  • To kick-off Giving Tuesday, PEDIGREE Foundation announced its 2019 grant awards, totaling more than $825,000 in grants to 327 different shelters and rescue organizations across the country to help get more dogs adopted. (
  • But we do know one thing: according to several studies, pedigree dogs don't live as long on average as crossbreds. (
  • When the documentary Pedigree dogs Exposed brought up these issues in the UK, at first the Kennel club was furious - and the filmmaker bore the brunt. (
  • A pedigree dog is born from two dogs of the same breed, and is registered with a recognised club or society that maintain a register for dogs of that description. (
  • Keep reading to see which dogs have the pedigree and which are fresh from the puppy mill. (
  • In most cases, this pedigree will be incomplete, as not all dogs have all their siblings entered in the database. (
  • Admittedly, Pedigree is a top-quality name, especially if you own one of these blue-blood dogs. (
  • Our aim was to investigate the impact of traditional selective breeding practices on pedigree dog welfare and to suggest a number of possible ways forward to improve the welfare of pedigree dogs. (
  • We hoped this would help inform all those dedicated to protecting and improving the welfare of pedigree dogs. (
  • We hope that this report will be seen as a constructive contribution to the current debate into the welfare of pedigree dogs and encourages wider discussion. (
  • Find out about our actions for pedigree dog welfare (PDF 52KB) since the BBC documentary, Pedigree Dogs Exposed. (
  • With this year's contributions, PEDIGREE Foundation has provided 5,500 grants totaling more than $8 million in donations since 2008 to support people and organizations committed to finding forever homes for deserving dogs. (
  • Two cornerstones of PEDIGREE Foundation's grant efforts are the DOGS RULE. (
  • Item Description 12 x 400g PEDIGREE TINS IN GRAVY Wet Dog Food Canned / Beef in Gravy 400g100% Complete and delicious wet dog food for adult dogs. (
  • My dogs love the different flavors of Pedigree available, as I switch them every other day. (
  • Both of my dogs ( A Collie & a Sheltie ) are picky eaters but they love the Pedigree Chopped Ground Dinners -- particularly either the Filet Mignon or Chicken varieties. (
  • My Schnauzer has eaten Pedigree Steak and Vegetable Dry food for small dogs for about 6 years with what I considered mild issues such as an occasional can of the meats bursting with rot. (
  • Pet owners display their dogs, or pictures of their dead dogs, while discussing their lawsuit against Pedigree at a press conference yesterday in Taipei. (
  • An international class-action suit stemming from the deaths of thousands of dogs in Asian countries, including Taiwan, was filed against Pedigree, a US maker of dog food, in US Federal Court in early May, the Care for Animals and Protect the Earth Organization ( 關愛動物保護協會 ) said yesterday. (
  • Shen Jung-chen (沈蓉震), founder of the association, said that a correlation between certain questionable batches of Pedigree dog food manufactured in Thailand and numerous cases of kidney failure among dogs in Taiwan early this year had been indirectly confirmed. (
  • Questionable Pedigree products processed from raw materials that were already moldy and unhealthy were sold in several Asian countries, including Cambodia, Vietnam, Singapore and Taiwan, causing kidney failure in dogs, he said. (
  • They even set an upper limit on the compensation and were reluctant to apologize for the incident," said Liou Yu-feng (劉玉峰), who lost two dogs that ate Pedigree dry food. (
  • Pedigree is an animal invasion movie about the stories we tell about dogs and revolutions. (
  • At Pedigree®, we believe that dogs are good for us. (
  • The Pedigree® complete range of tasty and wholesome dog food and dog treats delivers everything that is essential to support and fuel all dogs' exuberant love of life. (
  • To download Pedigree products, please use your previous login/password on the Brisnet legacy site here . (
  • Pedigree Chopped Ground Dinner with Beef is formulated to meet the nutritional levels established by the AAFCO Dog Food Nutrient Profiles for maintenance. (
  • Just because you¿re buying a pedigree dog, this doesn¿t mean that the person you¿re buying from is a responsible breeder . (
  • A pedigree dog breeder and his son have been banned from keeping animals for 10 years after admitting cruelty charges. (
  • Pedigree Resource File (PRF) is a collection of user submitted genealogies. (
  • No merges, corrections, or additions are made to genealogies submitted to Pedigree Resource File. (
  • The most current version of the Pedigree Resource File (PRF) is available for free on the Internet as part of FamilySearch Genealogies . (
  • As with all compiled genealogies, Pedigree Resource File has significant limitations (see below) and more accurate information should be sought from the original records. (
  • Other features include Search and Replace, Spell Checking of all notes, extensive Source Documentation features, Repositories, Relationship Calculation, Web Page Creation in a variety of formats, Name Tags with pictures and 3-generation pedigree charts, and much more. (
  • For more than a decade, PEDIGREE Foundation has supported rescues and shelters in a shared mission to end pet homelessness,' said Kimberly Spina , President of PEDIGREE Foundation Board of Directors. (
  • In addition, PEDIGREE Foundation will provide more than 30 shelters and rescue organizations with program development grants to support their adoption efforts. (
  • Pedigree breeders breed bulls and sell them on, but they may never know how the bull performs over the years," he said. (
  • Mr Donnellan added that pedigree bull breeders would be able to use the Bull Tracker report to determine whether their bull is a good terminal sire, based on the progeny carcass information. (
  • Pedigree Original Gravy Bones Dog Biscuits are delicious, tasty crunchy biscuits that have been coated in a tasty gravy for a taste your dog will love. (
  • With the help of nutritionists and vets at Waltham™ Centre for Pet Nutrition, Pedigree® has created a varied range of tasty dog treats that come in all shapes, sizes and textures. (
  • If you did not have an account with the legacy Brisnet site before December 2016, and you need to purchase pedigrees or data files, please contact Customer Service at 1-800-354-9206 to create a special account. (
  • Supermarket chain buyers believe the switch to Pedigree is a smart move by Mars` Kal Kan unit in Vernon, Calif., a firm the confections giant acquired in the 1960s. (
  • Backer Spielvogel Bates, Mars` principal ad agency, has the assignment on the new Pedigree. (
  • Sharing your genealogy allowed you to preserve your family history in the Pedigree Resource File and share it with others around the world. (
  • Having a vivid memory of this in its prime when Pedigree was brewed by an independent Martons, I've long avoided reviewing this easy to find beer. (
  • This program generates T e X commands to typeset pedigrees - either T e X fragments or full L a T e X files, to be processed by the authors' pst-pdgr package. (
  • The following features and benefits are included in the free Pedigree Cats Screen Saver: * Three full-length, cd-quality musical compositions * 95 High-Quality Images * Wallpaper Support * 51 Transition Effects * Customizable Screensaver Settings Dialog Box * Microsoft Plus! (
  • His "presidential pedigree" consists of his father, the one-termer, and his brother, the worst president in the history of the Republic. (
  • Each time a consumer uploaded a photo of their favorite dog onto the site, the Pedigree brand donated $1 to the foundation. (
  • The Lord of the Rings Online official site has been updated with an overview of their pedigree and notary systems, which allow players to create family lines. (
  • The Free Pedigree Cats Screen Saver by displays 95 images of some of the most elegant and precious felines you may ever see! (
  • It is now thirty-four years since I issued ' The Pedigree of the Powell Family ' which gave particulars of the family history from the earliest date to which I had been able to trace it, down to June, 1891. (
  • Many suggestions that a continuation of the pedigree up to the present date, covering the periods of both the South African and the Great War, would be acceptable, have led me to collect particulars and print them in the present volume. (
  • Pedigrees continue to be registered at the College of Arms and kept up to date on a voluntary basis but they are not accessible to the general public without payment of a fee. (
  • Your veterinarian can take a small blood sample and send it off to a special laboratory where they can determine what breeds are in your pet's pedigree. (
  • In the 'Visitation of Warwickshire, 1682-83,' which was printed by the Harleian Society, will be found the arms and pedigree of the Dakins (or Dawkins) family of Maxstoke Hall, to which Susannah belonged, who was the wife of Peter Parker the printer and stationer. (
  • The program has support for multilanguage pedigrees (at the present moment the English and Russian languages are supported). (
  • It signified that Pedigree is a company that walks the walk when it comes to fully aligning with the values of its consumers," said John Anton, director of marketing at Pedigree. (
  • Raise a toast to a "shue" in pedigree. (
  • Pedigree Resource File contains many errors and unlike the FamilySearch Family Tree, corrections are not accepted. (
  • You can recognize such bonds by creating your own in-game family tree with the LOTRO Pedigree System! (
  • Like posted pedigrees, two plaques on the red brick exterior inform visitors that this house is on the National Register of Historic Places and that it was designed by architect William LeBaron Jenney and William Bryce Mundie. (
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