Highly Recurrent RET Mutations and Novel Mutations in
... live births) (1 ). The M:F ratio is ⬃4:1 for SSA-HSCR patients and ⬃1:1 for LSA-HSCR patients (1 ). Approximately 20% of HSCR cases are familial. The recurrence risk for siblings of SSA-HSCR probands varies from 1.5% to 3.3%, whereas the risk for siblings of LSA-HSCR probands varies from 3% to 18% ( ...
... live births) (1 ). The M:F ratio is ⬃4:1 for SSA-HSCR patients and ⬃1:1 for LSA-HSCR patients (1 ). Approximately 20% of HSCR cases are familial. The recurrence risk for siblings of SSA-HSCR probands varies from 1.5% to 3.3%, whereas the risk for siblings of LSA-HSCR probands varies from 3% to 18% ( ...
SHORT COMMUNICATION One-step multiplex RT-PCR
... The patient who was negative for BCR/ABL had clinical features and peripheral blood film suggestive of chronic myeloproliferative disease. Her condition was complicated by carcinoma of the breast that developed later. The use of conventional cytogenetic analysis has complemented PCR at initial diagn ...
... The patient who was negative for BCR/ABL had clinical features and peripheral blood film suggestive of chronic myeloproliferative disease. Her condition was complicated by carcinoma of the breast that developed later. The use of conventional cytogenetic analysis has complemented PCR at initial diagn ...
The making of the Fittest: Natural Selection and Adaptation
... sequence-specific binding of an activator to a switch activates the expression of the gene. All cells in the body have the same genes and switches, but the kinds of activator proteins present can vary among cell types. Thus, the presence of multiple switches allows a particular gene to be on or off ...
... sequence-specific binding of an activator to a switch activates the expression of the gene. All cells in the body have the same genes and switches, but the kinds of activator proteins present can vary among cell types. Thus, the presence of multiple switches allows a particular gene to be on or off ...
TILLING. Traditional Mutagenesis Meets
... Ann Arbor, MI) to facilitate this step. We have identified .3,000 Arabidopsis mutations in this way, typically using the readout from only the strand in which the primer is closer to the detected mutation. By contrast, methods that do not provide an approximate location for a detected mutation, such ...
... Ann Arbor, MI) to facilitate this step. We have identified .3,000 Arabidopsis mutations in this way, typically using the readout from only the strand in which the primer is closer to the detected mutation. By contrast, methods that do not provide an approximate location for a detected mutation, such ...
Bio 309F
... the answers on the scantron are as you want them. Through out the exam, please cover your answers. Do not use electronic gadgets, including telephone--so, please turn off your telephone prior to starting the exam. Turn in both the scantron and the exam. I. Multiple Choice, scan in the best answer (5 ...
... the answers on the scantron are as you want them. Through out the exam, please cover your answers. Do not use electronic gadgets, including telephone--so, please turn off your telephone prior to starting the exam. Turn in both the scantron and the exam. I. Multiple Choice, scan in the best answer (5 ...
Mutations
... 200 repeats. • Disease causing alleles have > 200 CGG repeats. Lectured by Han-Jia Lin ...
... 200 repeats. • Disease causing alleles have > 200 CGG repeats. Lectured by Han-Jia Lin ...
A family of human Y chromosomes has dispersed throughout
... the regions involved in the first homologous recombination events in the two pathways. (B) FISH probes hybridized to interphase nuclei from a man (PD223) whose STS results are consistent with the reference sequence in (A). Hybridization with the green and red probes produced the expected pattern: gr ...
... the regions involved in the first homologous recombination events in the two pathways. (B) FISH probes hybridized to interphase nuclei from a man (PD223) whose STS results are consistent with the reference sequence in (A). Hybridization with the green and red probes produced the expected pattern: gr ...
Plant and Soil
... possible to obtain magenta coloured nodules containing the gusA-marked strain and by subsequently using the substrate X-gal, following heat-inactivation of endogenous enzymes, blue nodules are formed by the celB-marked strain. Hence, simultaneous localization of two specific strains plus the unmarke ...
... possible to obtain magenta coloured nodules containing the gusA-marked strain and by subsequently using the substrate X-gal, following heat-inactivation of endogenous enzymes, blue nodules are formed by the celB-marked strain. Hence, simultaneous localization of two specific strains plus the unmarke ...
Slide 1
... accompanied by the unique clinical features of mental retardation and rapid progression of disease. Linkage studies were performed on 93 individuals, and the results show strong evidence for linkage of the SCA locus to the HLA loci. A maximum logarithm of the odds score of 5.83 was found at a recomb ...
... accompanied by the unique clinical features of mental retardation and rapid progression of disease. Linkage studies were performed on 93 individuals, and the results show strong evidence for linkage of the SCA locus to the HLA loci. A maximum logarithm of the odds score of 5.83 was found at a recomb ...
Mutations in SIN4 and RGR1 Cause Constitutive Expression of MAL
... group 2 mutants relieve glucose repression. Maltase expression was assayed following growth under maltoseinduced, glucose-repressed, and uninduced growth conditions. The results for strains carrying the mutant allele from CM-31 and CM-33 are presented in Figure 1C and ...
... group 2 mutants relieve glucose repression. Maltase expression was assayed following growth under maltoseinduced, glucose-repressed, and uninduced growth conditions. The results for strains carrying the mutant allele from CM-31 and CM-33 are presented in Figure 1C and ...
Unraveling the Genetic Mysteries of the Corneal Dystrophies
... Autosomal recessive; least common and most severe; early onset Three types have been described based upon the presence of antigenic keratan sulfate Vision more severely affected than in other stromal dystrophies Characterized by stromal haze, and milky white opacities (glucosamineglycans; descemet’s ...
... Autosomal recessive; least common and most severe; early onset Three types have been described based upon the presence of antigenic keratan sulfate Vision more severely affected than in other stromal dystrophies Characterized by stromal haze, and milky white opacities (glucosamineglycans; descemet’s ...
Medullary thyroid cancer
... and a Marfanoid body habitus. FMTC is defined by the isolated finding of MTC in multiple family members. Because FMTC shares a common genetic defect with MEN 2A, it can be difficult to distinguish a family that initially appears to be FMTC from one that may soon prove to become MEN 2A, as the manife ...
... and a Marfanoid body habitus. FMTC is defined by the isolated finding of MTC in multiple family members. Because FMTC shares a common genetic defect with MEN 2A, it can be difficult to distinguish a family that initially appears to be FMTC from one that may soon prove to become MEN 2A, as the manife ...
Evaluation of the role of rank and opg genes in paget`s disease of
... Paget’s disease of bone (PDB) has an estimated prevalence up to 5% in the population over the age of 55 years,2,11 and is thereby the second leading skeletal disorder affecting the older population of the western world, exceeded only by osteoporosis. The disease involves expedited remodeling, result ...
... Paget’s disease of bone (PDB) has an estimated prevalence up to 5% in the population over the age of 55 years,2,11 and is thereby the second leading skeletal disorder affecting the older population of the western world, exceeded only by osteoporosis. The disease involves expedited remodeling, result ...
Marine integrons containing novel integrase genes
... In order to understand the structure and biological significance of integrons and associated gene cassettes in marine polluted sediments, metagenomic DNAs were extracted from sites at Suez and Tokyo Bays. PCR amplicons containing new integrase genes, intI, linked with novel gene cassettes, were reco ...
... In order to understand the structure and biological significance of integrons and associated gene cassettes in marine polluted sediments, metagenomic DNAs were extracted from sites at Suez and Tokyo Bays. PCR amplicons containing new integrase genes, intI, linked with novel gene cassettes, were reco ...
Poster: Litter size in Norwegian White Sheep
... In 2011 we realized that a mutation in the GDF9 gene (c.1111G>A or V371M) is associated with an increase in litter size. The mutation increases the litter size by approximately 0.3 lambs per copy of the allele. The variance in litter size increases with the mean. 850 ewes from flocks with both a hig ...
... In 2011 we realized that a mutation in the GDF9 gene (c.1111G>A or V371M) is associated with an increase in litter size. The mutation increases the litter size by approximately 0.3 lambs per copy of the allele. The variance in litter size increases with the mean. 850 ewes from flocks with both a hig ...
The role of mutagenesis in defining genes in behaviour
... in specific genes, or even in gene sequences that correspond to specific functional domains in proteins.5 In addition, mutagenesis screens in other vertebrate species continue to provide alternate sources of mutant phenotypes.6 ENU mutagenesis studies are relatively simple to set up. Males are injec ...
... in specific genes, or even in gene sequences that correspond to specific functional domains in proteins.5 In addition, mutagenesis screens in other vertebrate species continue to provide alternate sources of mutant phenotypes.6 ENU mutagenesis studies are relatively simple to set up. Males are injec ...
Unequal Crossing Over Locus by KIR Cutting Edge: Expansion of the
... can be seen at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db⫽ Books (8)). In general, KIR haplotypes contain 7–12 genes plus two pseudogenes, although very short haplotypes that contain as few as three or four genes have been observed infrequently (Ref. 3 and M. P. Martin, unpublished observation ...
... can be seen at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db⫽ Books (8)). In general, KIR haplotypes contain 7–12 genes plus two pseudogenes, although very short haplotypes that contain as few as three or four genes have been observed infrequently (Ref. 3 and M. P. Martin, unpublished observation ...
Comparative Genomic Hybridization in Chronic B
... by CGH (six cases: 2, 8, 18, 23, 24, and 27). (2) No metaphase cells were obtained after short-term culture (three cases: 10, 14, and21). (3) By banding analysis, complex karyotype abnormalities were found. The chromosomal origin of some of these aberrations (eg, marker chromosomes) could not be ide ...
... by CGH (six cases: 2, 8, 18, 23, 24, and 27). (2) No metaphase cells were obtained after short-term culture (three cases: 10, 14, and21). (3) By banding analysis, complex karyotype abnormalities were found. The chromosomal origin of some of these aberrations (eg, marker chromosomes) could not be ide ...
A Family Guide to the Ectodermal Dysplasia Syndromes
... normally held do not develop well, which may lead to an “oldage” appearance of the face. Some females, who are carriers for the types of ED syndromes that affect males much more severely (the genetically X-linked types) may have small jaws and front teeth that are narrower than normal. Before dentur ...
... normally held do not develop well, which may lead to an “oldage” appearance of the face. Some females, who are carriers for the types of ED syndromes that affect males much more severely (the genetically X-linked types) may have small jaws and front teeth that are narrower than normal. Before dentur ...
Xylitol production using recombinant Saccharomyces
... reductase genes (XYL1 ) of Pichia stipitis at chromosomal d-sequences. S. cere6isiae 2805-39-40, which contains about 40 copies of the XYL1 gene on the chromosome, was obtained by a sequential transformation using a dominant selection marker neo r and an auxotrophic marker URA3. The multiple XYL1 ge ...
... reductase genes (XYL1 ) of Pichia stipitis at chromosomal d-sequences. S. cere6isiae 2805-39-40, which contains about 40 copies of the XYL1 gene on the chromosome, was obtained by a sequential transformation using a dominant selection marker neo r and an auxotrophic marker URA3. The multiple XYL1 ge ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.