'Autosomal' presentation slideshows

Echocardiography

Echocardiography. Cardiomyopathies. Cardiomyopathies. Definition Primary disease of the myocardium, excluding myocardial dysfunction due to ischemia, chronic valvular disease, hypertensive heart disease and pulmonary heart disease. Diagnosis by exclusion. Cardiomyopathies.

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Mendelian Pedigree patterns

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Genetic Screening for Relatives of Hemochromatosis Patients

989 views • 55 slides

The Human Genome

560 views • 40 slides

Understanding Polyglutamine Structure

550 views • 39 slides

Pedigree Charts

578 views • 31 slides

Chapter 9

Chapter 9. Patterns of Inheritance. 9.8 Pedigree analysis . A pedigree can be used to analyze traits in humans . 9.9 Disorders determined by a single gene . AUTOSOMAL RECESSIVE DISEASES Albinism Cystic fibrosis PKU (phenylketonuria) Sickle cell disease Tay - Sachs disease .

443 views • 29 slides

Explain this pedigree

Please Take Out The Following: Pencil Science Journal: Notes Portion Chapter 8 Homework Packet *If you have not taken the Chapter 8 Quiz from yesterday, SEE ME NOW !. Explain this pedigree. In sex-linked traits only females can be carriers.

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Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD). By: Jon Jensen. What We Will Be Discussing Today. Topic 1. Topic 2. Phenotype Description and Inheritance. Normal Gene Function. The 6 Main topics in relation to DMD:. An Introduction to this Disorder. Diagnosis and Treatment. Implications. Topic 3.

1.74k views • 23 slides

Diagnostic Testing for Familial Pancreatitis

Diagnostic Testing for Familial Pancreatitis. Emma McCarthy Clinical Scientist Merseyside & Cheshire Regional Molecular Genetics Laboratory. Aims. Overview of pancreatitis both hereditary and idiopathic Genes involved & diagnostic service PRSS1 dosage analysis. Pancreatitis.

416 views • 19 slides

Genetics Review

Genetics Review. Honors Bio 2011. Which parents would you expect to give only one phenotype?. AaBb x aabb AaBb x AABB AaBb x AaBb AaBb x AAbb. Which parents would you expect to give a 9:3:3:1 ratio of phenotypes?. AaBb x aabb AaBb x AABB AaBb x AaBb AaBb x AAbb.

391 views • 19 slides

Leucine Zippers

Leucine Zippers. Louise Slater. DNA Binding Proteins. Two fundamental contrasting concepts of sequence-specific DNA binding protein specificity: Binding specificity results from direct atomic interaction between amino acid side chains and base pairs in minimally distorted B DNA.

434 views • 17 slides

HCVM

HCVM. Member of b -herpesvirus family >200 ORFs Genes are expressed in a regulated cascade Some fulfill regulatory functions pUL38 expression during early phase pUL38 blocks apoptosis. http://www.abbottdiagnostics.co.uk. Tuberous Sclerosis Complex. Autosomal dominant disorder

279 views • 17 slides

Human Genetics

Human Genetics. Inheritance Patterns for Autosomal and Sex-Linked Genes Variations in Genetic Patterns. Loci, Genes and Alleles. Locus = area on chromosome where gene is located (plural = loci) Gene = sequence of DNA that codes for a protein, gives rise to physical trait

321 views • 17 slides

Pedigree Charts

Pedigree Charts. What is a pedigree? Constructing a pedigree Interpreting a pedigree. The family tree of genetics. What is a Pedigree Chart?. Slide # 2. 1. A Pedigree chart traces the inheritance of a particular trait through several generations.

481 views • 17 slides

Metabolic bone diseases

Metabolic bone diseases. There is a clinical problem?. Osteopertrosis. Hereditary decreased osteoclastic function. Decreased resoprtion leads to thick sclerotic bones. Pathology Problems with the osteoclast resorption pit Increased bone density -> thick brittle bones -> fracture

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327 views • 14 slides

The classical linkage analysis method

From linkage analysis to linkage disequilibrium mapping: the case of HRPT2 ( a gene mutated in Hyperparathyroidism-jaw tumor syndrome) by Silvano Presciuttini Dept.of Biomedicine, University of Pisa, Italy and IDRB, NHGRI, Baltimore, USA.

301 views • 13 slides

Lecture 3: Single gene inheritance

Lecture 3: Single gene inheritance. Mutations. Haploinsufficient phenotpyes. Pax 6 mutation. normal. AC absent. Olfactory bulb hypoplasia. Pax 6 mutation phenotype: aniridia , hyposmia. Single gene inheritance in haploids: budding yeast. ascus. Products of meiosis in yeast.

275 views • 11 slides

Pedigrees

Pedigrees. Autosomal Sex-linked Queen Victoria. Pedigree design. http://www.uic.edu/classes/bms/bms655/lesson3.html. Autosomal dominant pedigree. http://www.uic. edu/classes/bms/bms655/gfx/pedigree1.gif. Autosomal recessive pedigree. http://ocw.tufts.edu/data/51/551169/551355_xlarge.jpg.

151 views • 7 slides