This document summarizes human sex determination and sex-linked genetic traits. It explains that humans have 23 pairs of chromosomes, including one pair of sex chromosomes (XY for males, XX for females). Genes located on the X and Y chromosomes can determine sex-linked traits and disorders. Examples discussed include color blindness, hemophilia, and Duchenne's muscular dystrophy, which are more common or only present in one sex due to their location on the X chromosome.
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
There are two types of chromosomes, Autosomes and Sex chromosomes
Autosomes are those chromosomes that are not involved in sex determination.
Sex chromosomes are those chromosomes that determine the sex of an organism.
A human somatic cell has two sex chromosomes: XY in male (hetero-gametic) and XX in female (homo-gametic).
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
There are two types of chromosomes, Autosomes and Sex chromosomes
Autosomes are those chromosomes that are not involved in sex determination.
Sex chromosomes are those chromosomes that determine the sex of an organism.
A human somatic cell has two sex chromosomes: XY in male (hetero-gametic) and XX in female (homo-gametic).
Chapter 15: Chromosomal Basis of InheritanceAngel Vega
KEY CONCEPTS
15.1 Morgan showed that Mendelian inheritance has its physical
basis in the behavior of chromosomes: Scientific inquiry
15.2 Sex-linked genes exhibit unique patterns of inheritance
15.3 Linked genes tend to be inherited together because they are located near each other on the same chromosome
15.4 Alterations of chromosome number or structure cause
some genetic disorders
15.5 Some inheritance patterns are exceptions to standard
Mendelian inheritance
Chapter 15: Chromosomal Basis of InheritanceAngel Vega
KEY CONCEPTS
15.1 Morgan showed that Mendelian inheritance has its physical
basis in the behavior of chromosomes: Scientific inquiry
15.2 Sex-linked genes exhibit unique patterns of inheritance
15.3 Linked genes tend to be inherited together because they are located near each other on the same chromosome
15.4 Alterations of chromosome number or structure cause
some genetic disorders
15.5 Some inheritance patterns are exceptions to standard
Mendelian inheritance
Concept of Sex chromosomes and autosomes,
Inheritance of X- linked genes – eye colour in Drosophila,
Inheritance of colour blindness in humans,
Inheritance of Y-linked Genes -Holandric genes in humans,
Sex influenced genes – baldness in humans
Sex-limited genes - feathering in domestic fowl
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
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.
Problem 13.32 Copy For the following crosses, determine as accurately.pdfferoz544
Present value calculations allow one to determine
A. the return to an uncertain asset.
B. the present-day costs and/or benefits of various options.
C. the utility value of a particular option.
D. the social cost of financial calculations.
E. the real wage.
Solution
B. the present-day costs and/or benefits of various options.
Present value calculations involve discounting future costs and/or benefits of a project so that
they can be compared with other available alternatives..
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
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