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MEDICAL GENETICS - University of Michigan Health System
MEDICAL GENETICS - University of Michigan Health System

... We humans are 99.9% identical at the DNA sequence level • There are still ~3 million nucleotide differences among us---that presumably account for differences in disease susceptibility, drug responses, etc. • Polymorphic variation between and within populations • Implications for concepts of “race, ...
Figure 14.0 Painting of Mendel
Figure 14.0 Painting of Mendel

... Recessive: (a)  Not noticeable in appearance when individual has one copy  Individual must have two copies of recessive allele to express the trait ...
Evolution and Classification Review
Evolution and Classification Review

... • These are closely related species, but the American toad mates in the early part of summer, while the Fowler's toad mates later in the season. ...
Object 4: Genetic fingerprinting
Object 4: Genetic fingerprinting

... to charge the suspect with the crime. Genetic fingerprinting also helps scientists identify bodies, by comparing their DNA to those of missing people or their relatives. It can also be used to work out whether people are related to each other, such as paternity testing. Pathology Genetics is the pat ...
Neuronal ceroid lipofuscinosis or Batten disease
Neuronal ceroid lipofuscinosis or Batten disease

Slide 1 - Ommbid.com
Slide 1 - Ommbid.com

... Map positions of six highly polymorphic DNA markers on chromosome 15 linked to BLM. The loci shown above the line representing chromosome 15 were employed in homozygosity mapping (genetic map distances in cM). Braced loci have not been separated by recombinational analysis. FES and D15S127 are separ ...
II. Probability and Punnett Squares
II. Probability and Punnett Squares

Genetic Disorders
Genetic Disorders

... Example: Sickle Cell Anemia • Most common blood disorder • Usually affects those of African decent – Deformed “sickled” red blood cells – What problem will that cause? What do blood cells carry? ...
Leukaemia Section t(1;12)(p36;p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section t(1;12)(p36;p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology

... Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0112p36p13ID1170.html DOI: 10.4267/2042/37992 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2003 Atlas of Genetics and Cytogenetics in Oncology and Haematology ...
Detection of different genes heredity
Detection of different genes heredity

Exam I Practice Exam
Exam I Practice Exam

... 2. In mice, dwarfism is caused by an X-linked recessive allele. If a dwarf female mouse is crossed with a normal male mouse, what will be the phenotypic ratios in the F1 and the F2 for each sex? Note: to generate the F2, brothers are mated with sisters in the F1. Show your work. ...
outline File - selu moodle
outline File - selu moodle

... Males and females express the same levels of certain genes found on the X chromosome Dosage compensation In females one X chromosome is randomly selected for modification 13.3 Exceptions to the Chromosomal Theory of Inheritance Mitochondrial and chloroplast DNA is inherited only from the egg cell. 1 ...
Genes and Genetic Disease
Genes and Genetic Disease

...  Frame shift mutation – deletion or insertion ATGCTACG……AT_CTACG or ATG G CTACG ...
27. The micro-evolution of FMDV
27. The micro-evolution of FMDV

... Our knowledge of fundamental processes underlying the population genetics of FMDV remains far from complete. Whether or not the dynamics of viral populations within individuals are governed by the principles of ‘quasi-species’ or those of more conventional ‘Darwinian’ selection depends critically on ...
What is behavioral genetics?
What is behavioral genetics?

... disease. The search for genes associated with characteristics such as sexual preference and basic personality traits has been even more frustrating. Genetics and molecular biology have provided some significant insights into behaviors associated with inherited disorders. For example, we know that a ...
Genetic Disorders and Diseases
Genetic Disorders and Diseases

... Males cannot transmit the disease as the cytoplasm is inherited only from the mother & mitochondria are present in the cytoplasm ...
PDF here - GEC-KO
PDF here - GEC-KO

... on genetic predisposition. Some people with MS have few or none of these susceptibility variants and conversely, most people found to carry these variants will never develop MS. ARE THERE RISKS ASSOCIATED WITH MS TREATMENT AND PREGNANCY OR BREAST FEEDING? Disease Modifying Therapies (DMT) Limited st ...
Genetic Disorders
Genetic Disorders

... bone growth that results in short stature with disproportionately short arms and legs, a large ...
Genetic Diseases & Disorders
Genetic Diseases & Disorders

... recessive, sex-linked trait located on the X chromosome that results in individuals being unable to see red and ...
Test 5 Notecards
Test 5 Notecards

... transcription: DNA is transformed into mRNA; remember to replace T’s with U’s. translation: mRNA strand is used to determine the amino acid sequence RNA vs. DNA: sugars are different, RNA has uracil instead of thymine; DNA is double stranded, RNA is single. mutations: a change in DNA that causes gen ...
Carmen L. Cadilla, Ph.D. Professor of Biochemistry Key Activity
Carmen L. Cadilla, Ph.D. Professor of Biochemistry Key Activity

... 1996 transferred to the Department of Biochemistry, where she directs the laboratory of Human Molecular Genetics and the MBRS-RISE Program of the Medical Sciences Campus. Her research is funded currently by the NCRR RCMI Program of the Medical Sciences Campus and UPR. Her current research focuses on ...
25.9.2015 Sudden Cardiac Death - EMGO Institute for Health and
25.9.2015 Sudden Cardiac Death - EMGO Institute for Health and

... hebt. Vervolgens blijkt dat je geen kanker had hoeven krijgen als je eerder had geweten dat je erfelijk belast was. Die informatie is ergens bekend, maar niet bij jou. • Call to become more active in informing family members at risk, especially if preventive interventions are available • From right- ...
Genetic and clinical study of LGMD type 2A in seven patients from a
Genetic and clinical study of LGMD type 2A in seven patients from a

15000 individuals - Terri L. Weaver, Ph.D.
15000 individuals - Terri L. Weaver, Ph.D.

... weak relationships? ...
Genetics
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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