Explanation of autosomal dominant inheritance
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This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
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Chromosomal disorders occur when there are changes in the number or structure of chromosomes. These changes can result in problems with growth, development and body functioning. There are two main types of chromosomal disorders: numerical aberrations which are changes in chromosome number, and structural aberrations which are changes in chromosome structure such as deletions, duplications, translocations, inversions, and ring chromosomes. Common chromosomal disorders include Down syndrome, Klinefelter syndrome, and Turner syndrome.
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The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
Mendelian diseases
Mendelian diseases are genetic disorders caused by mutations at individual gene loci that are passed down according to Mendelian patterns of inheritance. There are four main types of inheritance: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Examples of each type of inheritance pattern and the probability of offspring being affected are provided. Prevention and control of Mendelian diseases includes general health promotion, early diagnosis and treatment, rehabilitation, and genetic counseling.
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The document discusses different patterns of inheritance for single gene disorders:
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Types:
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Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
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Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
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Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
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New Drugs for Hemophilia treatment
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This document provides an overview of genetic disorders. It begins with an introduction defining genetic disorders and discussing their inheritance patterns. The history of genetics research is then summarized, from Mendel's work in 1866 to the mapping of the human genome in the 1990s. The document discusses several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Numerous specific genetic disorders are then described in detail such as cystic fibrosis, Huntington's disease, phenylketonuria, sickle cell disease, and more.
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introduction to genetics
1. The document discusses principles of genetics including concepts like heredity, variation, Mendelian genetics, and branches of genetics like cytogenetics and molecular genetics.
2. It summarizes Gregor Mendel's experiments with pea plants from 1856-1863 which led to his principles of segregation, independent assortment, and dominance and the rediscovery of his work in 1900.
3. Key genetics terminology is defined including genes, alleles, genotype and phenotype, and symbols and concepts used in pedigrees like dominant/recessive alleles and Punnett squares are explained.
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Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
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Antifibrinolytic Medicines
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Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
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Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
genetic disorder
This document discusses genetic disorders. It begins by defining genetic disorders as conditions caused by changes in genes or chromosomes. It then classifies genetic disorders into four main categories: single gene disorders, chromosomal abnormalities, mitochondrial disorders, and multifactorial disorders. The document goes on to describe different types of single gene disorders, including autosomal dominant disorders like Huntington's disease, autosomal recessive disorders like sickle cell anemia, and sex-linked recessive disorders like hemophilia. Specific examples and characteristics of each type of genetic disorder are provided.
Sickle cell anemia
This document discusses sickle cell anemia. It begins by explaining that sickle cell anemia causes red blood cells to become stiff, sticky and sickle-shaped which can block blood flow. It then describes the characteristics of normal red blood cells compared to sickled cells. The document outlines the pathological defect involving mutations in hemoglobin genes. It details the four main types of sickle cell disease and their symptoms. Diagnostic tests and medical management are discussed along with potential complications from sickle cell anemia. Nursing care focuses on monitoring for impaired skin integrity, risk of injury from joint swelling, and altered renal function.
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This document provides an overview of genetic disorders. It begins with an introduction defining genetic disorders and discussing their inheritance patterns. The history of genetics research is then summarized, from Mendel's work in 1866 to the mapping of the human genome in the 1990s. The document discusses several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Numerous specific genetic disorders are then described in detail such as cystic fibrosis, Huntington's disease, phenylketonuria, sickle cell disease, and more.
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Sex linked inheritance
This document discusses different types of sex-linked inheritance patterns. It defines sex-linked inheritance as inheritance determined by genes on the sex chromosomes. It describes x-linked dominant inheritance where if the mother is a carrier, 50% of sons and daughters will be affected, and if the father is a carrier, 100% of daughters will have the disorder but 0% of sons. It also discusses x-linked recessive inheritance where female carriers usually do not express the phenotype. Finally, it briefly mentions the rarity of y-linked inheritance occurring between fathers and sons.
Gene structure and its characteristics
Gene structure and its characteristics: structure of DNA, structure by watson and crick double helix structure, dominant and recessive gene, homologous and heterozygous state, translation, transcription, characteristics of gene.
Lyon hypothesis-X-inactivation-mosaic formation
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Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
Galactosemia
Galactosemia is a genetic disorder caused by a mutation in the GALT gene that results in the inability to break down the sugar galactose. It primarily affects babies and can cause failure to thrive, jaundice, infections, and cataracts if not treated by removing galactose from the diet. People with Romani descent have a higher risk of carrying the autosomal recessive mutation. The mutation changes an amino acid in the GALT enzyme needed to break down galactose, leading to its buildup in the blood if untreated.
Galactosemia
Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose, a sugar found in milk and dairy products. There are three main types depending on which enzyme is deficient in the galactose metabolic pathway. Classical galactosemia is caused by a deficiency in the GALT enzyme and can cause jaundice, vomiting, poor growth, and long term issues like cataracts and intellectual disabilities if not treated early. It is diagnosed through newborn screening or prenatal testing. Treatment involves a strict lifelong diet that avoids all sources of galactose to prevent symptoms and complications. While there is no cure, following the diet allows patients to live healthy lives.
Fixatives used in histopathology
This document discusses fixatives used in histopathology. It describes the process of fixation and how fixatives preserve tissue by denaturing or precipitating proteins. The ideal properties of a fixative are described, including preventing autolysis and allowing for staining. Common fixatives are classified and their mechanisms and uses are explained. Factors that affect fixation such as temperature, size, volume ratio, time, choice of fixative, and penetration are also summarized.
Galactosemia
La galactosemia es un trastorno hereditario del metabolismo que causa una deficiencia en la enzima galactoquinasa, lo que impide que el cuerpo procese la galactosa. Los síntomas incluyen ictericia, vómitos, convulsiones e hipoglucemia en los recién nacidos. El tratamiento consiste en una dieta estricta libre de galactosa de por vida. Aunque el pronóstico es mejor con un diagnóstico y tratamiento tempranos, algunos pacientes pueden presentar retraso intelectual u otras complicaciones.
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Chapter 3:
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Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
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A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
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Allele
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Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
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The Beginning of Life
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Gamete
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http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
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Usually not an issue
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Humans usually possess
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Male – XY
Mother’s contain X
Father’s may have X or Y
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Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docx
Chapter 3:
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California State University, Los Angeles
Overview
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Twins
Genotype & Phenotype
Disorders
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Basic unit of life
Trillions!
Nucleus
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Contains all of the information required to build/maintain the cell
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Genes
Small section of the chromosome
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Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
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http://mybrainnotes.com/brain-dna-behavior.html
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Allele
A variation of a gene
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Everyone inherits alleles from sperm & ovum
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Male – XY
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“ambiguous genitals,” = child's sex is not abundantly clear
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slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
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New Cells
Within hours of conception
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Explanation of autosomal dominant inheritance
- 1. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre Passing on genetic information from parents to children An explanation of autosomal dominant inheritance
- 2. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre • Here are some PowerPoint teaching slides which demonstrate the transmission of an autosomal dominant condition from parent to child; please feel free to use these within your teaching • Some parts of the animations run automatically; others require a mouse click • Most slides have notes with further information
- 3. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre Hundreds of genes are located on each chromosome (The dark bands on the chromosomes are due to a special staining technique and are not genes as these are too small to see) The 46 human chromosomes seen down the microscope
- 4. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre The 46 human chromosomes arranged in their 23 pairs (these are the chromosomes of a normal male)
- 5. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre Chromosome Position of particular gene
- 6. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre Altered gene Usual gene Chromosome
- 7. Parents Autosomal dominant inheritance where one parent has the condition Sperm or eggs Has condition
- 8. Parents Sperm or eggs At conception Autosomal dominant inheritance where one parent has the condition
- 9. Parents Sperm or eggs At conception Autosomal dominant inheritance where one parent has the condition Has the condition Has the condition Does not have the condition Does not have the condition
- 10. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre This is a family where raised cholesterol is being inherited as an autosomal dominant condition (familial hypercholesterolaemia) John Hall Died age 45 of heart attack Edith Hall Derek Hall Carol Woods Died in 2005 of heart attack Robert Woods James Hall Takes medication for high cholesterol Janet Hall Sophie High cholesterol Benjamin High cholesterol Matthew Hannah Jessica High cholesterol RichardBryony Wendy Hall Faith Joe
- 11. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2013 NHS National Genetics and Genomics Education Centre This animation is part of a series describing modes of inheritance To access these and other resources for teaching and learning genetics, please visit: www.geneticseducation.nhs.uk