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.
Inability of a plant with functional pollen to set seed when self-pollinated.
Hindrance to self-fertilization.
Prevents inbreeding and promotes outcrossing.
Reported in about 70 families of angiosperms including crop species.
Inability of a plant with functional pollen to set seed when self-pollinated.
Hindrance to self-fertilization.
Prevents inbreeding and promotes outcrossing.
Reported in about 70 families of angiosperms including crop species.
Slides on Genetic Disorders (Pedigree analysis, mendelian disorders, chromosomal disorders). All the content in this presentation has been picked up from the NCERT textbook of class 12th.
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.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Richard's aventures in two entangled wonderlandsRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
What is greenhouse gasses and how many gasses are there to affect the Earth.moosaasad1975
What are greenhouse gasses how they affect the earth and its environment what is the future of the environment and earth how the weather and the climate effects.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
2. z
Pedigree analysis symballs
definition - A pedigree is a
pictorial representation of a
family history, essentially a
family tree that
outlines the inheritance of o
more characteristics.
4. z
Let’s look closely at Figure 6.3 and consider some additional features of a pedigree. Each generation in a pedigree
is identified by a Roman numeral; within each generation,
family members are assigned Arabic numerals, and children
in each family are listed in birth order from left to right.
Person II-4, a man with Waardenburg syndrome, mated
with II-5, an unaffected woman, and they produced five
children. The oldest of their children is III-8, a male with
Waardenburg syndrome, and the youngest is III-14, an
unaffected female.
PROBAND - The person from whom the
pedigree is initiated is called the proband and is usually
designated by an arrow (IV-2 in Figure 6.3a
5. z
Traits Autosomal Recessive Traits
Autosomal recessive traits appear with equal frequency
in males and females. Affected children are commonly
born to unaffected parents who are carriers of the gene
for the trait, and the trait tends to skip generations.
Recessive traits appear more frequently among the
offspring of consanguine matings.
Mating between closely related people is called
consanguinity.
6. z
Tay – sachs desease (autosomal
Recessive disease) Children with Tay-Sachs disease appear healthy at birth but
become listless and weak at about 6 months of age. Gradually, their physical and neurological
conditions worsen,
leading to blindness, deafness, and eventually death at 2 to
3 years of age.
The disease results from the accumulation of
a lipid called GM2 ganglioside in the brain.
A normal component of brain cells, GM2 ganglioside is usually broken
down by an enzyme called hexosaminidase A, but Child with Tay-Sachs disease lack this
enzyme.
7. z
Excessive GM2 ganglioside accumulates in the brain, causing
swelling and,ultimately, neurological symptoms. Heterozygotes
haveonly one normal copy of the hexosaminidase A allele
produce only about half the normal amount of the enzyme
but this amount is enough to ensure that GM2 ganglioside
is broken down normally, and heterozygotes are usually
healthy.
8. z
Autosomal dominant trait
Autosomal dominant traits appear in both sexes with equal
frequency, and both sexes are capable of transmitting these
traits to their offspring.
When one parent is
affected and heterozygous and the other parent isunaffected, approximately ¹⁄₂ of the offspring will be affected.
1. If both parents have the trait and are heterozygous, approxiMately ³⁄₄ of the children will be affected. Provided that
the
trait is fully penetrant, unaffected people do not transmit
the trait to their descendants. In Figure we see that
none of the descendants of II-4 (who is unaffected) have
the trait.
9. z
Hypercholesterolemia
One trait usually considered to be autosomal dominant is familial
hypercholesterolemia, an inherited disease in which blood cholesterol is greatly
elevated owing to a defect in cholesterol transport. Cholesterol is an essential
component of cell membranes and is used in the synthesis of bile salts and
several hormones. Most of our cholesterol isobtained through foods, primarily
those high in saturatedfats. Because cholesterol is a lipid (a nonpolar, or
uncharged. Saturate compound), it is not readily soluble in the blood (a polar,
orcharged, solution
Cholesterol must therefore be transported throughout the body in small soluble
particles calledPathfinder lipoproteins (FIGURE 6.6); a lipoprotein consists of a
cor of lipid surrounded by a shell of chargedphospholipidsPathfinder and
Prooteins that dissolve easily in blood
10. z
One of the principlelipoproteins in the transport of cholesterol is
low-density lipoprotein (LDL)
When an LDL molecule reaches a cell,
it attaches to an LDL receptor, which then moves the LDL
through the cell membrane into the cytoplasm, where it
is broken down and its cholesterol is released for use by
the cell.
Familial hypercholesterolemia is due to a defect in the
gene, located on human chromosome 19, that normally
codes for the LDL receptor
autosomal dominant disorder because heterozygotes are deficient
in LDL receptors. In these people, too little cholesterol is removed
from the blood, leading to elevated blood levels of cholesterol and
increased risk of coronary artery disease.
11. z
Persons heterozygous for familial hypercholesterolemia have
blood LDL levels that are twice normal and usually have heart
attacks by the age of 35.About 1 in 500 people is heterozygous
for familial hypercholesterolemia and is predisposed to early
coronary arterydisease.
Very rarely, a person inherits two defective LDL receptor alleles.
Such persons don’t make any functional LDL receptors; their
blood cholesterol levels are more than six times normal and they
may suffer a heart attack as early asage 2 and almost inevitably
by age 20.
13. z
X – linked Recessive trait
Rare X-linked recessive traits appear more often in males
than in females and are not passed from father to son.
Affected sons are usually born to unaffected mothers
who are carriers of the gene for the trait; thus X-linked
recessive traits tend to skip generations.
14. z
also called classical hemophilia .This disease results from the absence of a protein
necessary for blood to clot.
The complex process of blood clotting consists of a cascade of reactions that includes
more than 13 different factors. For this reason, there are several typesPathfinder of
clotting disorders, each due to a glitch in a different step of the clotting pathway.
Hemophilia A results from abnormal or missing factorVIII, one of the proteins in the
clotting cascade.The der for factor VIII is located on the tip of the long arm of the X
chromosome; so hemophilia A is an X-linked recessve disorder. People with hemophilia
A bleed excessively; even small cuts and bruises can be life threatening
16. z
X – linked dominant traits
X-linked dominant traits affect both males and females.
Affected males must have affected mothers (unless they
possess a new mutation), and they pass the trait on to
all their daughters.
17. z
I.E.HYPOPHOSPHATEMIA
hypophosphatemia, or familial vitamin D-resistant rickets. People
with this trait have features that superficially resemble those
produced by rickets: bone deformities, stiff spines and joints, bowed
legs, and mild growth deficiencies.
This disorder, however, is resistant toPathfindertreatment with
vitamin D, which normally cures ricketsX-linked hypophosphatemia
results from the defectivetransport of phosphate, especially in cells
of the kidneys.People with this disorder excrete large amounts of
phosphate in their urine, resulting in low levels of phosphate in the
blood and reduced deposition of minerals in the bone.
As is common with X-linked dominant traits, males with
hypophosphatemia are often more severely affected than females.
18. z
Y – linked traits
Rare X-linked recessive traits appear more often in males
than in females and are not passed from father to son.
Affected sons are usually born to unaffected mothers
who are carriers of the gene for the trait; thus X-linked
recessive traits tend to skip generations.