Human geneticdisorders
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The document discusses several human genetic disorders including cystic fibrosis, sickle-cell disease, and hemophilia. It explains that cystic fibrosis and hemophilia are caused by recessive alleles while sickle-cell disease involves a co-dominant allele. The document also introduces pedigrees as a tool geneticists use to track the inheritance of traits through families, representing males as squares and females as circles and using shading to indicate if an individual has a trait or is a carrier.
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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.
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The document discusses inheritance patterns and genetic disorders. It provides examples of experiments studying inheritance in pea plants. Mendel's experiments on pea plants showed that offspring inherit traits from parents through alleles and that some alleles are dominant while others are recessive. The document also summarizes several genetic disorders and their inheritance patterns such as diabetes, cancer, heart disease, and PKU. It describes the genetic and environmental factors that influence these conditions.
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Gregor Mendel's pea plant experiments in the mid-19th century laid the groundwork for genetics by demonstrating that traits are passed from parents to offspring via discrete units of inheritance called genes. The document defines genetic terminology like alleles, genotypes, phenotypes, dominant/recessive traits, and describes Mendel's laws of segregation and independent assortment. It also discusses sex-linked inheritance and variations like incomplete dominance and polygenic traits. Common human genetic disorders are reviewed including examples like sickle cell disease, cystic fibrosis, and Duchenne muscular dystrophy.
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The document discusses several key topics related to human genetics and genomics:
1. It provides an overview of human chromosomes, sex determination, patterns of inheritance like dominance and codominance, and chromosomal disorders.
2. It describes several human genetic disorders like sickle cell anemia, cystic fibrosis, and Huntington's disease, explaining how mutations cause these conditions.
3. It discusses techniques used to study the human genome like DNA manipulation, restriction enzymes, gel electrophoresis, and DNA sequencing.
4. It outlines the goals and findings of the Human Genome Project, including the development of bioinformatics to analyze genomic data.
Chapter 5 section 2 notes
This document covers several genetics concepts including incomplete dominance, multiple alleles, polygenic inheritance, mutations, recessive disorders, sex determination, sex-linked disorders, and how to read a pedigree. It provides examples for each concept such as pink flowers to demonstrate incomplete dominance, blood types for multiple alleles, and color blindness as a sex-linked disorder. Pedigrees are used to track traits through generations of a family.
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Through heredity, living things inherit traits from their parents. Traits are physical characteristics. You resemble your parents because you inherited your hair and skin color, nose shape, height, and other traits from them.
Cells are the basic unit of structure and function of all living things. Tiny biochemical structures inside each cell called genes carry traits from one generation to the next. Genes are made of a chemical called DNA (deoxyribonucleic acid). Genes are strung together to form long chains of DNA in structures known as chromosomes. Genes are like blueprints for building a house, except that they carry the plans for building cells, tissues, organs, and bodies. They have the instructions for making the thousands of chemical building blocks in the body. These building blocks are called proteins. Proteins are made of smaller units called amino acids. Differences in genes cause the building of different amino acids and proteins. These differences cause individuals to have different traits such as hair color or blood types.
A gene gives only the potential for the development of a trait. How this potential is achieved depends partly on the interaction of the gene with other genes. But it also depends partly on the environment. For example, a person may have a genetic tendency toward being overweight. But the person's actual weight will depend on such environmental factors as how what kinds of food the person eats and how much exercise that person does.
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There are several types of inheritance including dominant-recessive, incomplete dominance, co-dominance, sex-limited, sex-linked, and polygenic inheritance. Dominant-recessive inheritance involves a dominant trait being expressed when one allele is dominant. Incomplete dominance results in an intermediate phenotype when neither allele is dominant. Co-dominance occurs when both alleles are expressed equally in a heterozygote. Sex-limited and sex-linked traits are dependent on sex chromosomes. Polygenic inheritance involves multiple genes contributing to a single trait and results in continuous variation in phenotypes.
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This document discusses different patterns of inheritance including recessive, dominant, autosomal, and sex-linked traits. It provides examples of several genetic diseases that are inherited through autosomal recessive or dominant patterns including cystic fibrosis, Gaucher disease, osteogenesis imperfecta type 1, and Huntington's disease. It describes the genes involved, typical symptoms, and inheritance patterns for each of these conditions.
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- Males are usually affected because they only have one X chromosome, so only one abnormal gene is needed to cause the disease.
- Females can be carriers and pass the abnormal gene to their sons but usually do not show symptoms themselves because they have a second normal X chromosome.
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This document contains multiple genetics questions about inheritance patterns in humans and other organisms. It asks the reader to determine expected phenotypic and genotypic ratios from given crosses, identify parental genotypes, and assign alleles to explain observed inheritance patterns. It also contains basic questions about genetics concepts like the number of chromosomes per cell and the definition of a gene.
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The document discusses different patterns of inheritance for genetic conditions:
- Autosomal dominant requires only one copy of the mutated gene to cause the condition, affecting both sexes equally. Examples given are Progeria and Huntington's disease.
- Autosomal recessive requires two copies of the mutated gene to cause the condition, can skip generations, and affects both sexes equally. Examples given are albinism and Tay-Sachs disease.
- X-linked recessive mainly affects males and can skip generations as fathers pass the gene to daughters but not sons. Examples given are hemophilia and Duchenne muscular dystrophy.
- X-linked dominant affects females more than males, with fathers passing the gene to
Genetic disorders 3
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.
Inheritance patterns new
The document discusses inheritance patterns and genetic disorders. It provides examples of experiments studying inheritance in pea plants. Mendel's experiments on pea plants showed that offspring inherit traits from parents through alleles and that some alleles are dominant while others are recessive. The document also summarizes several genetic disorders and their inheritance patterns such as diabetes, cancer, heart disease, and PKU. It describes the genetic and environmental factors that influence these conditions.
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This document discusses human genetics and inheritance through three main topics: genetic disorders, types of recessive genetic disorders (including cystic fibrosis, albinism, and Tay-Sachs disease), and dominant genetic disorders (including Huntington's disease and achondroplasia). It also covers pedigrees, which are diagrams used to track the inheritance of traits through generations using symbolic representations of individuals and their genetic statuses. Key points are that recessive traits only appear if homozygous, while dominants can be inherited heterozygous or homozygous, and conditions like cystic fibrosis and Huntington's disease are caused by genetic defects on specific chromosomes.
Modes of inheritance
Lecture given by Leon MUTESA, MD,PhD , a genetician teaching at UR( UNIVERSITY OF RWANDA, HUYE CAMPUS,SCHOOL OF MEDICINE AND PHARMACY, DEPARTMENT OF GENERAL MEDICINE AND SURGERY).
10. patterns of inheritance
Gregor Mendel's pea plant experiments in the mid-19th century laid the groundwork for genetics by demonstrating that traits are passed from parents to offspring via discrete units of inheritance called genes. The document defines genetic terminology like alleles, genotypes, phenotypes, dominant/recessive traits, and describes Mendel's laws of segregation and independent assortment. It also discusses sex-linked inheritance and variations like incomplete dominance and polygenic traits. Common human genetic disorders are reviewed including examples like sickle cell disease, cystic fibrosis, and Duchenne muscular dystrophy.
Inheritance
The document discusses genetics and patterns of inheritance. It defines genetics as the study of heredity and how traits are passed from parents to offspring through mechanisms like meiosis and fertilization. It also defines heredity, variation, and mutation. The document then discusses Gregor Mendel's experiments with pea plants in the 1860s, where he studied inheritance of traits like seed shape, pod shape, and flower color. His experiments led to the formulation of Mendel's laws of inheritance - the law of dominance, the law of segregation, and the law of independent assortment.
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The document discusses several key topics related to human genetics and genomics:
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The document provides information about sickle cell anemia. It discusses that sickle cell anemia is a genetic blood disorder where red blood cells become sickle shaped and have trouble flowing through small blood vessels. This causes tissue damage from lack of blood flow. Symptoms include anemia, pain episodes, organ damage, and stroke. It is inherited when both parents carry the sickle cell gene. While there is no cure, treatment focuses on managing pain and preventing complications.
Linked inheritance
Breaking down Biology into simpler bits is the most effective way to learn hence this presentation aims to simplify the concept of 'Linked Inheritance' which makes understanding Inheritance better.
59 ch14humangenetics2008
1) The document discusses several human genetic diseases including cystic fibrosis, Tay-Sachs disease, sickle cell anemia, and Huntington's chorea.
2) These diseases are often inherited in simple recessive patterns, meaning that carriers who are heterozygous typically do not show symptoms but can pass the disease-causing allele to offspring.
3) For some genetic diseases like sickle cell anemia, being a carrier provides an evolutionary advantage in regions where malaria is common, leading to balancing selection maintaining the allele in the population.
Pedigree presentation
Based on the information provided, here are my responses:
- The inheritance pattern shown in this pedigree is autosomal recessive. Cystic fibrosis is caused by mutations in the CFTR gene and follows an autosomal recessive pattern of inheritance.
- III-1 is likely a carrier (heterozygous for a CF mutation). His wife is unlikely a carrier.
- III-2 and II-3 are also likely carriers since they each had an affected child but are unaffected themselves.
- The odds that IV-5 would have an affected son is 25% since each parent is a carrier. There is a 50% chance they would pass on a CF mutation to each child and a 25% chance both would
Sex linked traits
This document discusses genes that have more than two alleles (poly-allelic genes). It provides examples of poly-allelic genes, including the ABO blood type gene, which has three alleles that produce the A, B, and O antigens. The document explains that poly-allelic genes can generate more genotypes than di-allelic genes. It also discusses X-linked inheritance and provides Drosophila eye color as an example, noting that X-linked traits are observed disproportionately in males.
Human Inheritance & Genetic Disorders
This document discusses human genetics and genetic disorders. It explains that genes located on chromosomes control human traits and can cause disorders if mutated or in an abnormal number. Some examples of genetic disorders mentioned are cystic fibrosis caused by a recessive gene mutation, sickle cell anemia caused by a codominant allele, and Down syndrome caused by an extra 21st chromosome. Pedigrees and karyotypes are tools that can be used to study genetics and identify genetic disorders in families.
Multiple allele - Genetics
This document discusses several examples of traits that are controlled by multiple alleles rather than just two alleles. It describes human blood types which are controlled by the A, B, and O alleles. Coat color in rabbits is another example, with agouti, chinchilla, himalayan, and albino colors each denoting specific alleles. Sex-linked traits like hemophilia and color blindness are discussed along with examples of inheritance patterns and genetic crosses. Baldness is presented as a sex-influenced trait where the bald allele behaves dominantly in males due to higher testosterone levels.
pedigreeanalysis-110327104009-phpapp02.pdf
1) Pedigree analysis is a tool used to study inheritance patterns of genetic traits and diseases in human families. It allows inferences about genotypes and predictions about disease risk for offspring.
2) A sample pedigree is presented showing inheritance of cystic fibrosis, an autosomal recessive disease. Affected individuals are marked and generations are numbered.
3) Different categories of inheritance exist, including autosomal recessive/dominant and X-linked recessive/dominant patterns. Autosomal recessive traits are often rare and skip generations while autosomal dominant traits are common in every generation.
Free martin
Freemartinism is an intersex condition in cattle that occurs when a female twin shares blood supply with a male twin in utero. This allows masculinizing molecules from the male twin to disrupt the female's sexual development, preventing fertility. A freemartin is defined as a sterile female calf born as a twin with a male due to placental vascular anastomoses between fetuses of different sex, leading to disrupted differentiation of the female's ovaries and genital tract. Diagnosis can be made through physical exam or serological/cytogenetic testing, and early detection is important to cull infertile freemartin heifers from the herd.
Cultural Diversity - Health Care & The Amish
The document provides information about the history and health practices of the Amish. It discusses how the Amish are descendants of the Anabaptist movement from 16th century Europe. They settled in North America in the 17th and 18th centuries. The document outlines several genetic health conditions common among the Amish due to their limited gene pool. It also discusses Amish cultural practices around pregnancy, childbirth, nutrition, and end-of-life care. The goal is to educate healthcare providers on the Amish culture and beliefs to provide culturally competent care.
Pedigree analysis, benjamin
This document discusses pedigree analysis and the different modes of inheritance for genetic traits. It begins by defining a pedigree as a pictorial representation of a family history and inheritance of traits. It then discusses the symbols used in pedigrees to represent generations, individuals, and their characteristics. The document goes on to explain autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked traits and provides examples like Tay-Sachs disease, familial hypercholesterolemia, hemophilia, and hypophosphatemia.
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