This document discusses several key concepts in human genetics and evolution:
1. It defines important genetic terms like allele, dominant and recessive alleles, genotype and phenotype.
2. It describes types of chromosomes including autosomes, sex chromosomes, and karyotypes.
3. It summarizes human evolution from early primates to Homo sapiens, noting changes in the skull, vertebral column, teeth and limbs that enabled bipedalism.
Definition
Centromere Particular chromosome complement of an individual or a related group of individuals, as defined by the chromosome size, morphology, and number –Karyotype.
Karyotype
CLASSIFICATION OF CHROMOSOMES FORKARYOTYPING
Types of karyotype
Asymmetric Karyotype
• Show larger difference
between smaller and
larger chromosome in a
set.
• Have more acrocentric
chromosomes.
• Have relatively
advanced feature.
Symmetric Karyotype
Show lesser difference
between smaller and
larger chromosome in a
set.
• Have more metacentric
chromosomes.
• Have no relatively
advanced feature
Procedure of karyotyping
SPECIMENS USED
Types of banding
G-banding
R-banding
c-banding
Q-banding
T-banding
Karyotype Detects Various Chromosome Abnormalities
Aneuploidy
Deletions
Duplications
Translocations
Idiogram
Advantages of Karyotyping
Disadvantages:
Definition
Centromere Particular chromosome complement of an individual or a related group of individuals, as defined by the chromosome size, morphology, and number –Karyotype.
Karyotype
CLASSIFICATION OF CHROMOSOMES FORKARYOTYPING
Types of karyotype
Asymmetric Karyotype
• Show larger difference
between smaller and
larger chromosome in a
set.
• Have more acrocentric
chromosomes.
• Have relatively
advanced feature.
Symmetric Karyotype
Show lesser difference
between smaller and
larger chromosome in a
set.
• Have more metacentric
chromosomes.
• Have no relatively
advanced feature
Procedure of karyotyping
SPECIMENS USED
Types of banding
G-banding
R-banding
c-banding
Q-banding
T-banding
Karyotype Detects Various Chromosome Abnormalities
Aneuploidy
Deletions
Duplications
Translocations
Idiogram
Advantages of Karyotyping
Disadvantages:
Cytogenetics is the diagnostic study of the structure and properties of chromosomes and cell division, which employs various methods, one of them being "karyotyping." It has made it possible to visualize undetected chromosomal anomalies such as small portions of chromosomes and translocations of tiny parts of chromosomes to one another. Because such procedures also enabled each pair of chromosomes to be distinguished individually, it has helped to further understanding the chromosomal basis of certain important genetic disorders.This seminar highlights the importance of "karyotyping" and its importance in the diagnosis of chromosomal disorders.
Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every cell in our body. A chromosome is a DNA molecule with part or all of the genetic material (genome) of an organism. Chromosomes are normally visible under a light microscope only when the cell is undergoing the metaphase of cell division. Before this happens, every chromosome is copied once (S phase), and the copy is joined to the original by a centromere, resulting in an X-shaped structure. The original chromosome and the copy are now called sister chromatids. During metaphase, when a chromosome is in its most condensed state, the X-shape structure is called a metaphase chromosome.
Cytogenetics is the diagnostic study of the structure and properties of chromosomes and cell division, which employs various methods, one of them being "karyotyping." It has made it possible to visualize undetected chromosomal anomalies such as small portions of chromosomes and translocations of tiny parts of chromosomes to one another. Because such procedures also enabled each pair of chromosomes to be distinguished individually, it has helped to further understanding the chromosomal basis of certain important genetic disorders.This seminar highlights the importance of "karyotyping" and its importance in the diagnosis of chromosomal disorders.
Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every cell in our body. A chromosome is a DNA molecule with part or all of the genetic material (genome) of an organism. Chromosomes are normally visible under a light microscope only when the cell is undergoing the metaphase of cell division. Before this happens, every chromosome is copied once (S phase), and the copy is joined to the original by a centromere, resulting in an X-shaped structure. The original chromosome and the copy are now called sister chromatids. During metaphase, when a chromosome is in its most condensed state, the X-shape structure is called a metaphase chromosome.
Anatomy of the breast for medical/dental students. This presentation also contains MCQs to test your knowledge as well as clinical scenario to apply your knowledge.
Also known as GP note, "Pol" note, PP note
Medical students/ pre-interns/ Family physicians use various notes to guide their general practice at the begining, specially drug doses, common treatments for common diseases etc. These "guides" have been used by many seniors but need to be careful revision before prescribing. Hope to update once I go through them completely.
Also known as GP note, "Pol" note, PP note
Medical students/ pre-interns/ Family physicians use various notes to guide their general practice at the begining, specially drug doses, common treatments for common diseases etc. These "guides" have been used by many seniors but need to be careful revision before prescribing. Hope to update once I go through them completely.
Also known as GP note, "Pol" note, PP note
Medical students/ pre-interns/ Family physicians use various notes to guide their general practice at the begining, specially drug doses, common treatments for common diseases etc. These "guides" have been used by many seniors but need to be careful revision before prescribing. Hope to update once I go through them completely.
Medical students/ pre-interns/ Family physicians use various notes to guide their general practice at the begining, specially drug doses, common treatments for common diseases etc. These "guides" have been used by many seniors but need to be careful revision before prescribing. Hope to update once I go through them completely.
The original teachings of Jesus Christ were an outcome of
Buddhism, says Holger Kersten, a German theology teacher.
Hence one of the titles of the chapters in his book, "The
Original Jesus" (sub-titled 'Buddhist sources of Christianity') is 'Jesus the Buddhist'!
Examination of lower limb in neurology-Short case approach for Final MBBSYapa
Examination of lower limb in neurology-medicine short case approach.
This document was prepared based on the teachings of Dr.Kahathuduwa.
Fonts in blue indicate sample way of presenting the case.
By: Ajaan Mahā Boowa Ñānasampanno
Translated by: Ajaan Paññāvaddho
A senior disciple of Ajaan Mun, Ajaan Khao Anālayo was one of the foremost meditation masters of our time. He always preferred to practice in remote, secluded locations and with such single-minded resolve that his diligence in that respect was unrivaled among his peers in the circle of Thai forest monks. In his frequent encounters with wild animals, Ajaan Khao exhibited a special affinity for elephants.
“The Gift of Dhamma Excels All Other Gifts”
—The Lord Buddha
Dhamma should not be sold like goods in the market place.
Permission to reproduce this publication in any way for free distribution,as a gift of Dhamma, is hereby granted and
no further permission need be obtained.
Reproduction in any way for commercial gain is strictly prohibited.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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.
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
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.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
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
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
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TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
1. Yapa Wijeratne
Human Genetics
Allele- alternative forms of a gene, which occur at the same locus on homologous
chromosomes.(If the maternal & paternal alleles are identical, person is homologous )
Dominant allele- an allele that exerts its phenotypic effect in the heterozygous; it hides the
expression of the recessive allele.
Recessive allele- an allele that exerts its phenotypic effect only in the homozygous; its
expression is masked by a dominant allele.
Gene locus- the specific location of a particular gene on homologous chromosomes.
Genotype- the genes of an organism for a particular trait or traits; e.g. BB , Aa
Phenotype- the visible expression of a genotype. e.g. brown eyes, attached earlobes
Heterozygous- possessing unlike alleles for a particular trait.
Homozygous- possessing 2 identical alleles for a particular trait.
Autosome- any chromosome other than a sex chromosome.
Mutation- an alteration in chromosome structure or number & also an alteration in a gene
due to a change in DNA composition.
Polyploidy (polyploid)- a condition in which an organism has more than 2 complete sets of
chromosomes.
Sex chromosome- a chromosome that determines the sex of an individual ; in animals,
females have 2 X chromosomes & males have an X & Y chromosome.
X-linked gene- gene located on the X chromosomes that does not control a sexual feature
of the organism.
Karyotype- chromosomes arranged by pairs according to their size, shape & general
appearance in mitotic metaphase.
Nondisjunction- the failure of homologous chromosomes or daughter chromosomes to
separate during meiosis I & meiosis II respectively.
Anticodon-3 nucleotides on a tRNA molecule attached to a complementary codon on
mRNA.
Codon- 3 nucleotides of DNA or RNA; it codes for a particular AA or termination of
translation.
Exon- in a gene, the portion of the DNA code that is expressed as the result of polypeptide
formation.
Intron- non-coding segment of DNA that are transcribed but removed before mRNA leaves
the nucleus.
Transcription- the process whereby a DNA strand serves as a template for the formation of
mRNA.
Translation- the process whereby the sequence of codons in mRNA determines (is
translated into) the sequence of AAs in a polypeptide.
Double helix of DNA- maintain stability of structure.
DNA contains the information needed to encode proteins. 64 combinations are possible
within 4 bases (20 AA). 3 bases represent a 1 AA.
Most proteins have more than one complementary codon.-Redundancy of AA.
Gene- sequence of DNA which codes for one polypeptide.
1
2. Yapa Wijeratne
Replacing / removal/ addition of nucleotides may lead to mutations. If the replaced AA has
same chemical properties of the previous AA the resulting protein may function normally.
Replacing may sometimes lead to enhance the function of a protein.
Polymorphism
Difference in DNA sequence among individuals, groups or populations that gives rise to
different forms.
e.g. blood group formation.
Producing a protein or a characteristic of the organism (trait) is the expression of a gene.
In the heterozygous state the dominant allele (dominant trait) expresses itself while the
recessive allele (recessive trait) does not.
House keeping genes are the genes which produce structurally & functionally vital proteins
for the normal integrity of a cell. Mutations of these genes will produce proteins which are not
capable of doing particular functions.
75% of the genes can not afford even a subtle change in their structure. (sequence of AA)
Miscarriages – (Abortions- particularly within 1st 3 months of pregnancy) will result, if
mutations occur in house keeping genes.
Other 25% of genes (polymorphic genes) can afford subtle mutations but it may reduce or
enhance its expression.
Gene pool- all the genetic material in a given population.
If a gene has a frequency over 1% in a gene pool, that variant of the gene is accepted as a
polymorphic form of that particular gene.
Polymorphic forms of a morphogene give rise to morphological variations of individual
species. Variations are vital to withstand environmental changes.
e.g. Defective Hb (sickle cell) prevents African people from infecting with malaria. Having
sickle cell Hb is now vital for the continuity of African people.
Heterozygous advantage - In the heterozygous state if the recessive gene is defective, it is
covered by the normal gene which is dominant.
In Heterozygous state both dominant & recessive genes are expressed but dom. gene
overrides. There are various mechanisms to prevent the expression of certain genes.
e.g. Attaching to the nuclear membrane but still a small portion of the inactivated X
chromosome [Barr body] is necessary for the secondary sexual characteristics of a female.
So having a 1X chromosome will result defects. This inactivation is the reason for the
females to become carriers of various chromosomal abnormalities.
Genetic load-amount of hidden inactive lethal mutations.
There is a high chance of these genes to express in marriages between relatives. That is
why 1st cousin marriages are discouraged.
Chromosomes
Centromere is an adenine-thymine (A-T) rich region ranging in size from 10 2-106 base pairs.
It binds several proteins with high affinity. This complex- Kinetochore provides an anchor
for the mitotic spindle.
2
3. Yapa Wijeratne
The ends of each chromosome contain structures -> Telomeres
Telomeres consist of short, repeat TG-rich sequences. Proteins.
Telomeres prevent joining free 3’-->5’ ends of DNA strand.
DNA in eukaryotic genome unique/ non-repetitive sequence
repetitive sequence moderately repetitive
highly repetitive
Repetitive sequence is found in telomeres.
Telomerase – is the enzyme responsible for telomere synthesis & thus for maintaining the
length of the telomere.
After each division telomere shortening Aging(when telomere cannot loss,
sequence stops)
Malignant transformation
Cancer cells do not depend on telomeric sequence. Telomerase restores/ replaces lost
parts, telomeric sequence. So cell division doesn’t stop.
So Cancer chemotherapy
Drug development Telomerase
The basic number of chromosomes in the somatic cells of an individual or a species-
Somatic number- is designated 2n.
2n --> homologous chromosomes for each given chromosomes.
Karyotype
Characteristic chromosome complement of a eukaryotic species.
The preparation & study of Karyotype is part of cytogenetics - Karyotype analysis.
Human Karyotype preparation
1. Blood cells are centrifuged. WBC & RBC are separated.
2. Induce the cells to divide.-chemicals
3. Colchicine is added to stop division of WBC.-to arrest the division in metaphase
(usually 48-72 hrs after begin)
4. Break he nuclear membrane.
5. Hanging drop method- to divide each cell’s nuclear material.
6. Slide is prepared. Sample is fixed & stained (Giemsa, immunofluorecent stains).
7. Slide is examined for cells about to divide.
8. Chromosomes are photographed, enlarged & then cut apart.
Position of centromere
Banding appearance can identify homologous chromosomes.
Reverse banding appearance -> different banding pattern -> but same areas can be
identified.
Metacentric chromosomes- centromeres in the middle.
Submetacentric chromosomes- centromeres intermediate position/ towards the end.
Acrocentric chromosomes- centromeres close to one end /end.
Chromosomal aberrations
1.Numerical
Polyploidy
Aneuploidy-missing or having an extra chromosome.
Monosomies or trisomies
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4. Yapa Wijeratne
Remove 1 chromosome for certain chromosomes.
Loss or extra chromosome-if in germ cells, not compatible for life. definitely
cause problem (brain development & morphology) ->syndromes
e.g. monosomic for <number> chromosome
Syndrome Sex Chromosomes
Down M/F Trisomy 21
Patau M/F Trisomy 13
Edward M/F Trisomy 18
Turner F XO
Metafemale F XXX (or XXXX)
Klinefelter M XXY (or XXXY)
XYY M XYY
O-sex chromosome is missing.
Nondisjunction-occurs when either homologous fail to separate during anaphase I of meiosis
Or sister chromatids fail to separate during anaphase II.
Can happen when people are old as many cells are not functioning properly.
Nondisjunction is more common during meiosis I than during meiosis II. It can also occur
during mitosis.
In animals , autosomal monosomies & trisomies are generally lethal.
e.g. Down syndrome
o Aneuploidy situation
o Alter morphological & IQ
o Space between eyes is large
o lowstep ears
Klinefelter-aberrations in sex chromosome-usually IQ is OK.
2.Structural
Chromosomal mutations
1. Inversion
2. Translocation
3. Deletion
4. Duplication
Inversion
When a segment of a chromosome is turned around 180 0.
New position might lead to altered gene activity.
Translocation
Movement of a chromosomal segment from one chromosome to another, non-
homologous chromosome.
Usually have reduced fertility due to production of abnormal gametes.
When translocations occur Down syndrome->Translocation Down syndrome
2 types. i. Reciprocal- heterologous chromosomes
ii.Robertsonian
Deletion
When an end of a chromosome breaks off or when two simultaneous breaks lead to
the loss of a segment.
e.g. cat’s cry syndrome
small head mentally retarded facial abnormalities
abnormal development of the glottis & larynx
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5. Yapa Wijeratne
Duplication
Doubling of a chromosomal segment.
Fragile X syndrome
Isochromosomes
Ringchromosomes
Gene mutations
1.Frame shift mutations
Drastic.
1 or more nucleotides are inserted or deleted from DNA. Then “reading frame” shifts
& sequence of codons is altered.
2.Point mutations
A change in a single nucleotide & therefore a change in a specific codon. When one
base is substituted for another, the results can be variable.
Can be drastic.
e.g.
Tyr codon
Additional Tyr codon Stop codon His codon
Normal protein Incomplete protein Faulty protein
Silent mutation Nonsense mutation Missense mutation
3.Mosaicism
Chromosomal aberrations
1. Numerical
a. Polyploidy
b. Aneuploidy
c. Monosomies or trisomies
2. Structural
a. Chromosomal mutations
i. Inversion
ii. Translocation
iii. Deletion
iv. Duplication
b. Gene mutations
i. Frame shift mutations
ii. Point mutations
3. Mosaicism
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6. Yapa Wijeratne
Human Evolution
Primates ( chimpanzees, orangutan, gorilla, human)
One cell tube birds bat
(Unicellular) (coelenterate) amphibians
Primates-most of them are mammals
4 legged 2 legged Homo erectus Homo sapiens
Changes in vertebral column
4 legged -> brain & spinal cord in one plane
2 legged -> Angulation between brain & spinal cord
Skull
Cranium (Cranial cavity) small Brain is small
Increase in the size of Cranial cavity
Sagittal crest (top of the skull) -> for prominent muscle attachment ( in low primates)
No Sagittal crest -> in Homo erectus & Homo sapiens
Supra ciliary ridges(eye brows area) prominent in low primates.
Vision- position of eye- binocular vision is absent in lower animal
Facial skeleton- long snout –jaws show Prognathism – because nasal cavity is large
Humans -> Prognathism is absent
Teeth – lower animals
1. Herbivore-leaves/vegetarian diet-more prominent grinding teeth-Molar teeth
2. Carnivore-meat eating-Canine (means “dog”) sharpness is reduced.
3. Omnivore-both
Hand- prominent & opposable thumb
Legs- mobility of the big toe is reduced.
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