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Leukaemia Section 1q translocations (unbalanced) in myeloid malignancies Atlas of Genetics and Cytogenetics
Leukaemia Section 1q translocations (unbalanced) in myeloid malignancies Atlas of Genetics and Cytogenetics

... therapy-related MDS and AML after therapy with alkylating agents: an M-FISH study. Genes Chromosomes Cancer. 2005 ...
Virtual Mentor - AMA Journal of Ethics
Virtual Mentor - AMA Journal of Ethics

... “prevention of harm” argument. The implications of this argument become apparent when it is applied to alternative reproductive scenarios. A review of the basic genetics of achondroplasia, a classical Mendelian disorder, will assist in an understanding of those implications. Achondroplasia demonstra ...


... polymorphisms result from variations in enzyme/protein structures while cytogenetic characterization detects variations in chromosome structure and numbers. As for molecular markers, variations in DNA sequences (i.e. point mutations) are detected. Furthermore, marker analyses such as these generate ...
TheraGuide 5-FU
TheraGuide 5-FU

... • Pharmacogenetic testing can be beneficial in oncology because it can help determine – How a patient will respond to chemotherapy • Example: cytochrome P450 2D6 (CYP2D6) genotype and ability to metabolize tamoxifen ...
Predicting Inherited Characteristics
Predicting Inherited Characteristics

... Characteristics Gregor Mendel studied heredity using pea plants.  His work is the foundation for Modern genetics. ...
ch 4 student work and study guide
ch 4 student work and study guide

... Analysis and Prenatal testing Question – If Sarah carries the mutant cancer gene and Adam carries the mutant heart disease gene, what is the chance that they will have a child that is free of both diseases? Video clip – cystic fibrosis How many caucasians are born with cystic fibrosis? What is the a ...
controversy and its implications Genetic hitchhiking versus
controversy and its implications Genetic hitchhiking versus

... distinguishing BGS and hitchhiking was a major activity in those years (until about 2000). An important question has been whether BGS alone can account for the patterns of variation we observe, or whether positive selection also needs to be invoked. Although numerous attempts have been made, the con ...
Chapter 10 Polygenic Inheritance
Chapter 10 Polygenic Inheritance

... Congenital Dislocation of Hip Joint ...
congress brochure - RE(ACT) congress
congress brochure - RE(ACT) congress

controversy and its implications Genetic hitchhiking versus
controversy and its implications Genetic hitchhiking versus

... distinguishing BGS and hitchhiking was a major activity in those years (until about 2000). An important question has been whether BGS alone can account for the patterns of variation we observe, or whether positive selection also needs to be invoked. Although numerous attempts have been made, the con ...
PATTERNS OF INHERITANCE
PATTERNS OF INHERITANCE

... Symptoms of Huntington's disease commonly become noticeable between the ages of 35 and 44 years, but they can begin at any age from infancy,[1] [2] often when affected individuals have had children.[1] In the early stages, there are subtle changes in personality, cognition, or physical skills.[1] Th ...
PDF - European Journal of Biotechnology and Bioscience
PDF - European Journal of Biotechnology and Bioscience

... clinical application are also being utilized to make cells express immune activating agents locally at the disease site or to become susceptible to further drug treatment or to immune response recognition [18]. Genes, which are carried on chromosomes, are the basic physical and functional units of h ...
Chapter 5: Mendelian Traits and Behavior
Chapter 5: Mendelian Traits and Behavior

... excessive levels of phenylalanine and phenylpyruvic acid. If this test is positive, a more sensitive test is performed to confirm the diagnosis. The parents are informed, and the infant is placed on a special formula. The infant cannot have mother's milk, cow milk, or ...
Balanced reciprocal translocation at amniocentesis - FUNPEC-RP
Balanced reciprocal translocation at amniocentesis - FUNPEC-RP

... Balanced translocations, whereby two different chromosomes exchange segments with no gain or loss of genetic material, are common structural chromosomal rearrangements in humans. Frequency rates have been reported to range from 0.08 to 0.3% in the general population (Zhang et al., 2015a). Carriers o ...
Wide-spread polyploidizations during plant evolution Dicot
Wide-spread polyploidizations during plant evolution Dicot

... telomeric translocations and a telomere-to-telomere fusion gave rise to the extant chromosome structures in Z. rouxii. Chromosomes in green boxes are those that underwent rearrangements, while those in gray boxes are finished translocation products (i.e., extant regions in Z. rouxii). The edges of t ...
The Promises and Pitfalls of Genoeconomics
The Promises and Pitfalls of Genoeconomics

... genome, the study of genetics has been transformed. Until recently, almost no information was available about genetic variation across individuals. Now most common genetic variation can be inexpensively measured. These advances in genetics are in turn transforming medical research. Some diseases hav ...
Reciprocal Deletion and Duplication of 17p11.2-11.2
Reciprocal Deletion and Duplication of 17p11.2-11.2

... broad, square-shaped forehead, brachycephaly, an outwardcurving upper lip, and brachydactyly. Despite his relatively older age, patient 2 had no definite dysmorphic features. Patient 1 revealed frequent temper tantrums, aggression behavior, and difficulty paying attention. However, patient 2 showed ...
Mendelian Inheritance in Humans
Mendelian Inheritance in Humans

... • A recessively inherited disorder shows up only in homozygous individuals who inherit one recessive allele from each parent. • Individuals who lack the disorder are either homozgyous dominant or heterozygotes. • While heterozygotes may have no clear phenotypic effects, they are carriers who may tr ...
Nerve activates contraction
Nerve activates contraction

... • A recessively inherited disorder shows up only in homozygous individuals who inherit one recessive allele from each parent. • Individuals who lack the disorder are either homozgyous dominant or heterozygotes. • While heterozygotes may have no clear phenotypic effects, they are carriers who may tr ...
Genetic and epigenetic dissection of cis regulatory
Genetic and epigenetic dissection of cis regulatory

... Borevitz groups have recently developed a second generation SNP-tiling array for Arabidopsis thaliana. AtSNPtile1 arrays are publicly available and contain probes for each allele and each strand of 250 000 known non-singleton SNPs, as well as 1.7 million unique 25mer tiling probes covering the non-r ...
Stochastic Model for Genetic Recombination
Stochastic Model for Genetic Recombination

... producing an offspring that has the good characteristics of both parents. This can work only if it is possible to identify which parts of each parent should be extracted [2]. There are a number of approaches for detecting recombination in biological sequence, e.g, distance-based [3,4], substitution ...
Chapter 8 - Lamar County School District
Chapter 8 - Lamar County School District

... • Huntington’s Disease (HD): causes loss of muscle control, physical spasms, severe mental illness, and death – Most people do not realize that they have the allele for this until they have children ...
Ch10planttransformation
Ch10planttransformation

... population’ is needed. This is a progeny from a cross between parents that are different enough to have ...
Section 6.3- Mendelian Genetics
Section 6.3- Mendelian Genetics

...  This is why all sex cells are in the haploid condition.  This means that these cells only have one copy of the homologous pair.  If these cells were diploid, (which is the full number of ...
Mendel`s Genetics
Mendel`s Genetics

... Gregor Mendel, a little known Central European monk, was the only one who got it more or less right. His ideas had been published in 1866 but largely went unrecognized until 1900, which was long after his death. His early adult life was spent in relative obscurity doing Gregor Mendel basic genetics ...
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Medical genetics

Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.
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