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Leukaemia Section -Y / Y loss in leukemia in Oncology and Haematology
Leukaemia Section -Y / Y loss in leukemia in Oncology and Haematology

... 3.2% of ANLL male patients, and up to 10% of chronic myelogenous leukemia (CML) male patients. Percentage of -Y cells: - loss of the Y chromosome in 100% of the cells appears in about 20% of control cases who have lost their Y and about 30% of myeloid disease patients with a -Y karyotype; controls a ...
Resistenz der Wirtszelle gegen eine Infektion mit HIV
Resistenz der Wirtszelle gegen eine Infektion mit HIV

... slow rate because of the longer generation time of humans and their lower reproduction rate. Nevertheless, mutations still appear and like in viruses, positive mutations become fixed in the genome through selection, while at the same time disadvantageous mutations become purged out of the human geno ...
Document
Document

... (XPA gene) • Genetically engineered to not express XPA gene • Mice are UV sensitive and develop tumors • Use mice for DNA repair/cancer study ...
The Finnish disease heritage - Fennia
The Finnish disease heritage - Fennia

... Investigations into particular diseases How have the Finnish diseases become known, how have they been studied, and what are the benefits drawn from such investigations? The story of the first detected disease, the congenital nephrosis, may serve as an example (Jalanko et al. 2002). In the 1950s, at ...
GENETIC COUNSELLING IN PRIMARY IMMUNODEFICIENCY
GENETIC COUNSELLING IN PRIMARY IMMUNODEFICIENCY

... The complexity of this group of diseases is increasingly becoming more evident. As more genes are discovered and more conditions are added, it is evident that the phenotypic spectrum of these disorders varies considerably. Investigators have found great variability in the effects of different mutati ...
Gene Section USP6 (ubiquitin specific protease 6 (Tre-2 oncogene))
Gene Section USP6 (ubiquitin specific protease 6 (Tre-2 oncogene))

... many splicing variants have been identified in the untranslated exon 1. There are at least two major transcripts with an approximate lenght of 8 kb. ...
Retinitis Pigmentosa
Retinitis Pigmentosa

... RP affects approximately 1 out of every 4,000 Americans. Signs and symptoms of retinitis pigmentosa The first symptoms of retinitis pigmentosa usually occur in early childhood, when both eyes typically are affected. However, some cases of RP may not become apparent until affected individuals are in ...
Classroom Activity - Faculty of Sciences
Classroom Activity - Faculty of Sciences

... Agriculturalists have long been using breeding, and therefore genetics, to develop cattle that better suit their needs. While some genetic traits are complex, others are quite simple to identify and map through generations. In this activity, we will assume a number of cattle traits follow Mendelian ...
Retinitis Pigmentosa
Retinitis Pigmentosa

... RP affects approximately 1 out of every 4,000 Americans. Signs and symptoms of retinitis pigmentosa The first symptoms of retinitis pigmentosa usually occur in early childhood, when both eyes typically are affected. However, some cases of RP may not become apparent until affected individuals are in ...
Improved glutathione production by gene expression in
Improved glutathione production by gene expression in

... Glutathione (GSH, or L - γ -glutamyl-L-γ -cysteinylglycine) exists widely in nature and protects cells againstoxidation (Meister 1994). Its antioxidation function is mainly due to its role in maintaining the normal redox environment of cells (Izawa et al. 1995). GSH is now widely used in pharmaceut ...
Comparing DNA Sequences to Understand
Comparing DNA Sequences to Understand

... genes two species have in common, the more recent their common ancestor and the closer the two species will be located on a cladogram. As you collect information from BLAST for each of the gene files, you should be thinking about your original hypothesis and whether the data support or cause you to ...
Cause and effect of mutation
Cause and effect of mutation

... gametes throughout their lifetime ...
A-13-LinkageAnalysis
A-13-LinkageAnalysis

... We use a marker with codominant alleles A1/A2. We speculate a locus with alleles H (Healthy) / A (affected) If the expected number of recombinats is low (close to zero), then the speculated locus and the marker are tentatively physically closed. ...
(PowerPoint) Southeast 2012 - Yale Center for Teaching and Learning
(PowerPoint) Southeast 2012 - Yale Center for Teaching and Learning

... show how these terms are related to one another. Use arrows to link terms and write in words or phrases to connect the terms. • Terms: gene, DNA, protein, nucleotide, codon, ...
Information Sheet 7 ways Oral Health affects Overall Health
Information Sheet 7 ways Oral Health affects Overall Health

... good news is that whether you’ve been a smoker for one year or for ten, quitting smoking can quickly lower your risk of developing oral cancer, lung cancer, heart disease, emphysema and painful lesions in the mouth that do not heal. If you’re looking for another reason to quit, the threat of a missi ...
Worksheet complete this genetics problem practice
Worksheet complete this genetics problem practice

... The gene that controls whether or not a person can produce the pigment melanin which contributes to the color of skin, eyes and hair. Some people have the hereditary condition, albinism; they are not able to produce melanin and have little or no pigment in their skin and hair. Two different versions ...
Genetic Disorders
Genetic Disorders

... Trait does not usually affect the parents Siblings have a ¼ chance of having the trait Think about consanguinity if mutant gene is rare Expression of the defect tends to be more uniform Complete penetrance is common Onset is frequently early in life New mutations are rarely detected clinically Many ...
S5. Untangling the central dogma- Extensions on
S5. Untangling the central dogma- Extensions on

... The Disease: Muscular Dystrophy (MD) is a group of diseases that cause progressive weakness and loss of muscle mass. In MD, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many different kinds of MD. Symptoms of the most common variety be ...
Basic genetics review  1. Overview a. Meiosis in male and female
Basic genetics review 1. Overview a. Meiosis in male and female

... o Also used for NTD diagnosis ( increased AFP and acetylcholinesterase) 8. Chorionic villus sampling (10-14 weeks) a. Placental chorionic tissue obtained transvaginal or abdominally b. Used to diagnosis aneuploidy, and some single gene disorders c. Not useful for NTDs, fragile X syndrome 9. Other te ...
Biology 22 Problem Set 1 Spring 2003
Biology 22 Problem Set 1 Spring 2003

... Hand in the solutions to each of the following problems. Put a box around each of your answers and show your work for partial credit. You may consult your book, lecture notes, other students and/or your instructor for assistance. 1. Fabry disease, a condition in which the lack of a lysosomal enzyme ...
JABBOUR 2
JABBOUR 2

... Bcr-Abl oncoprotein. Three tyrosine kinase inhibitors (TKIs), imatinib, nilotinib, and dasatinib have been approved by the US Food and Drug Administration for the first-line treatment of patients with newly diagnosed CML in chronic phase (CML-CP). Clinical trials with 2nd generation TKIs reported si ...
Notes
Notes

... o Extra segments of DNA added The Genetic Code & Mutations  Mutations can cause a cell to produce an ______________________________protein.  This causes the organism’s trait, or _____________________________, to be different from what it normally would have been.  Mutations that occur in a ______ ...
Lecture-3-F
Lecture-3-F

... The traits, later called genes, normally occur in pairs in body cells and separates during the formation of sex cells. This happens in meiosis, the production of gametes. Of each pair of chromosomes, a gamete only gets one. When two homozygotes with different alleles are crossed, all the offspring i ...
Downloads - BioMed Central
Downloads - BioMed Central

... The website contains several links to separate databases containing different information on human genetics and obesity. There are sections specific to information about single-gene mutations, Mendelian disorders, associations and linkages, in addition to other non-human sections. The association pa ...
Chapter 6 – Pedigree Analysis
Chapter 6 – Pedigree Analysis

... example of Mitochondrial inheritance is the Leber hereditary optical neuropathy (LHON). Mitochondria are very important in retinal cells for ATP and/or a specialized function. Mutations in several mtDNA genes result in blindness during early childhood. ...
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Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on ""lipid"" or ""fat"", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
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