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Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., testicles) to develop. This disorder results from mutation in SRY (SEX DETERMINANT REGION Y) gene on Y chromosome.

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Piriformis syndrome causes pain in the buttock which may radiate down the leg. It is due to the sciatic nerve being pressed by a tight piriformis muscle deep in the buttocks.

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Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.

Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development

Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips.

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Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the .

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Chapter 21 SQ2. Uterine contraction are the tightening and shortening of the uterine muscles during labor and menstrual cycle. During labor, contractions cause the cervix to become thin and dilate (open). It also help the baby to descend into the birth canal and lead to the delivery.

Stretch of the uterus during labor, and stimulation of the nipples when a baby nurses activate nervous reflexes that stimulate oxytocin release from posterior pituitary, oxytocin stimulate contractions of the uterus during labour, and stimulate the ejection of milk (letdown) during lactation, and to promote maternal nurturing behavior.

Uterine contractions also occur during the monthly menstrual cycle and are recognized as menstrual cramps.

Oxytocin release from pituitary gland increases uterine contraction which in turn stimulate pituitary to release more oxytocin. This is a positive feedback mechanism. This cycle continues till baby is born.

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ADH, antidiuretic hormone also called vasopressin or pitressin is a hormone secreted by posterior lobe of pituitary gland. Yhis hormone has both vascular and renel effects. This hormone brings about the constriction of blood vessel by acting on the smooth muscle resulting in the rise of blood pressure. This hormone also acts on kidneys, increasing reabsorption of water and salts from the glomerular filtrate. Its deficiency results in the large quantity of dilute urine. The disorder is called diabetes incipidus . Two kinds of ADH have been identified in mammals arginine ADH and lysine ADH. arginine ADH is more common.

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Cerebral lateralization; The left cerebral hemisphere controls the right side of the body, it contain the centers for speech, hearing, verbal memory, decision making, language processing and expression of the positive expressions. The right cerebral hemisphere controls the left side of the body and contains the centers for visual-Spatial information, non-linguistic sounds as music, tactile (touch) sensations and expressions of negative emotions.

About 90 percent of adults rely on their right hands (or left hemispheres) to write, eat, and perform other motor functions, whereas these same activities are under the control of the right hemisphere among most people who are left-handed. However, cerebral lateralization does not mean that each hemisphere is totally independent of the other; the corpus callosum,which connects the hemispheres, plays an important role in integrating their respective functions.

Good morning

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A nucleotide triphosphate (NTP) is a molecule containing a nucleoside bound to three phosphates. NTPs generally provide energy and phosphate group for phosphorylations. The terms ATP, GTP, CTP, and UTP refer to those nucleoside triphosphates that contain ribose sugar. The nucleoside triphosphates containing deoxyribose are called dNTPs. Four deoxyribonucleotide triphosphates (dNTP's) are required for DNA synthesis (difference between deoxyribonucleotides and ribonucleotides is the absence of an OH group at position 2 on the ribose ring). These are dATP, dGTP, dTTP and dCTP. The high energy phosphate bond between the and phosphates is cleaved and the deoxynucleotide monophosphate is incorporated into the new DNA strand.Ribonucleoside triphosphates (NTPs) are also required to initiate DNA synthesis. NTPs are used in the synthesis of RNA primers and ATP is used as an

energy source for some of the enzymes needed to initiate and sustain DNA synthesis at the replication.

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Importance of cleavage. Cleavage is a mitotic celll devision that results in the production of large number of small cell with out intervening growth betweeen two succesive cell devisions. clevage initiates The development of all organisms it produces a number of cells needed for the future organisation of the embryo. Cleavege results in increase in nuclear material with out increase in cytoplasmic material thus more transcripts for the protein synthesis. Clear?

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In Vitro Fertilization is a fertility procedure which first succeeded in 1978 by Dr. Edwards.

Special medical techniques are used to help a woman become pregnant. IVF is done due to

Damaged or blocked Fallopian tubes, micro-penis, erectile dysfunction and decreased sperm count.

Steps:

Fertility drugs, are given to the woman to boost egg production and stimulate the ovaries to produce several eggs.

Egg retrieval; A minor surgery, is done to remove the eggs from the women's body. The man's sperm is placed together with the best quality eggs. The mixing of the sperm and egg is called insemination.

When the fertilized egg divides, it becomes an embryo. Embryos are placed into the woman's

Uterus through cervix and vagina 3-5 days after fertilization.

More than one embryo may be placed into the womb at the same time, which can lead to twins, triplets, or more

Women who undergo IVF must take daily shots or pills of the hormone progesterone for 8 - 10 weeks after the embryo transfer.

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Chapter 1 SQ... Several factors influence the binding of oxygen to hemoglobin's temperature, pH, PCO2. Increasing the temperature of Hb lowers its affinity for O2 This has physiological importance during exercise since the temperature of muscle tissue is higher than 37C, and oxygen can be unloaded from Hb more easily at the higher temperature (lowered oxygen

affinity).increased H+ activity (decreased pH) also lowers the affinity of Hb for O2. In increase concentration of carbon dioxide recuces affinity of oxygen with hemoglobin. ??

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Chapter 1 SQ3. Myoglobin and hemoglobin are globular proteins that serve to bind and deliver oxygen in vertebrates. Both of these globins contain a prosthetic group for binding oxygen and they contain many similar structural characteristics.

MYOGLOBIN

Found in vertebrate muscle cells. Muscle in action require large amount of oxygen for respiration,Therefore, muscle cells use myoglobin to accelerate oxygen diffusion and act as localized oxygen reserves for times of intense respiration.

Consists of a single polypeptide chain (153 amino acids)

Has a compact globular structure.

Mb is a storage protein mainly in skeletal muscle

High O2 affinity and does not change with concentration.

HEMOGLOBIN

hemoglobin is found in the cytosol of red blood cells in the bloodstream. Hemoglobin is sometimes referred to as the oxygen transport protein .

it is a Four polypeptide chains Tetramer Each chain has a heme group Hence four O2 can bind to each Hb Two alpha (141 amino acids) and two beta (146 amino acids) chains.

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Pharmacogenomics is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses . Was getting some sleep

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Sanger method vs maxam gilbert sequencing....

Both methods generate a single stranded DNA segments In two different ways these DNA segments are separated by gel electrophoresis. In maxam gilbert method the DNA segments are denatured and subjected to specific chemicals that cleacmves the phospho ester bonds at specific bases and make fragments. The segments are separated using gel electrophoresis.

The sanger method uses a DNA polymerase to synthesize a new DNA strand using a template, a specific primer, and dNTPS in the presence of dideoxynucleotides (ddNTPs) that terminate the synthesis of chain. Each ddNTP is attached to a fluorescecnt dye so has color.

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Miscarriage vs abortion

A miscarriage is the spontaneous loss of a fetus before the 20th week of pregnancy. (Pregnancy losses after the 20th week are called stillbirths.)

A miscarriage may also be called a "spontaneous abortion." This refers to naturally occurring events, not surgical abortions.Other possible causes include:

Drug & alcohol abuse

Exposure to toxins

Hormone problems, Infection,Obesity, problems with the mother's reproductive organs.

An abortion is the medical process of ending a pregnancy so it does not result in the birth of a baby.

It is also sometimes known as a 'termination' or a 'termination of pregnancy'. is the ending of pregnancy by the removal or forcing out from the womb of a fetus or embryo before it is able to survive on its own.

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DNA probe....In molecular biology, a hybridization probe is a fragment of DNA or RNA of variable length (usually 100-1000 bases long) which is used in DNA or RNA samples to detect the target DNA that are complementary to the sequence in the probe. The probe thereby hybridizes to single-stranded nucleic acid (DNA or RNA) whose base sequence allows probetarget base pairing due to complementarity between the probe and target.

The probe is first denatured (by heating or under alkaline conditions such as exposure to sodium hydroxide) into single stranded DNA (ssDNA) and then hybridized to the target ssDNA

(Southern blotting) or RNA (Northern blotting) immobilized on a membrane.

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In molecular biology and genetics, splicing is a modification of the nascent pre-messenger RNA

(pre-mRNA) transcript in which introns are removed and exons are joined. splicing takes place within the nucleus after transcription. Splicing is needed for the typical eukaryotic messenger

RNA (mRNA) before it can be used to produce a correct protein through translation. Splicing is done in a series of reactions which are catalyzed by the spliceosome, a complex of small nuclear ribonucleoproteins.

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Many viruses inject their DNA genomes into cells; once inside, the viral DNA hijacks the cell's machinery to drive the production of viral proteins and, eventually, of progeny virus. Often, a viral infection results in the death of the host.

Bacteria and archaea have evolved mechanisms to protect themselves from viral infections.

They use restriction endonucleases (restriction enzymes) to degrade the viral DNA on its introduction into a cell. These enzymes recognize particular base sequences, called recognition sequences or recognition sites, in their target DNA and cleave that DNA at defined positions. cleave only DNA molecules that contain recognition sites

The host DNA is protected by other enzymes called methylases, which methylate adenine bases within host recognition sequences. For each restriction endonuclease, the host cell produces a corresponding methylase that marks the host DNA and prevents its degradation.

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A pyramid of biomass may be inverted e.g. In a pind ecosystem or standing water when the biomass of producers e.g phytoplanktons is much more lower than the biomass of heterotrophs such as fishes and insects. Phytoplankton produce very quickly but have a very short life span and are eaten by other animals.

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DNA polymerase vs RNA polymerase.

The polymer forming reaction catalyzed by RNA polymerase is similar to that catalyzed by DNA polymerase and there are many similarities in their structures. Like DNA polymerase, RNA polymerase uses one strand of DNA as a template or model which guides the synthesis of a new

strand of nucleic acid. Both the enzymes carry out their catalytic activity by production of phosphodiester bonds..

DNA polymerase plays vital role in replication of DNA. On the other hand RNa polymerase

Involved in the production of RNA from DNA through a process called transcription.

DNA polymease adds deoxyribonucleotides only to a preexisting 3OH group thus require a primer and have a proofreading system.

In constrast with the DNA polymerase RNa polymerase do not require a primer and start the process. RNA polymerase usses ribonucleitides. RNA polymerase donot have a proof reading system. The speed of polymerization is 50 nucleotides for RNA polymerase and 800 nuckeotides per second for DNA polymerase.

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A eukaryotic chromosomal DNA is packaged by proteins called histone proteins. The resulting dna-protein complex is called chromatin. Histones are a gmfamily of small positivelly chareged proteins termed as H1, H2a, H2b, H3 and H4. All four except H1 forms an octomer upon which

DNA is wrapred. The octomer is callled histone core. H1 is Linker Histone, which helps in compaction of chromatin by binding the internucleosomal DNA and facilitating interactions between nucleosomes.

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Monoploid and haploid.

Monoploid are organisms that have one set of chromosomes some species such as male bees are monoploid because they develope from an unfertilized egg. the term haploid describes the cell that has a single set of chromosomes . It also refera to male and female gametes. These haploid gametes upon fertilization retain the normal diploid chromosome number?

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Flora and fauna of Australia is different. Short question evolution.

Australian flora and fauna is very peculiar and has a number of endemic plants and animals.

Three basic reasons for the unique flora and fauna are, Temperature of the contenent remained constant for a long time thus plants and animals were able to adopt the particular envireonmental conditions. The continent is so isolated and it is impossible for outside species to arive. the area has a high fertility rate. organisms are very much similar to the organisms found on gondawanaland.

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Special creation vs evolution special creation state that, species species were created independently of one another. species do not change ower time. the species were created recently? according to this theory, God has created all the different forms of life that occur today on the planet Earth. Species were created at once? evolution state that organism living today are the descendants of common ancestor who were originally created from inorganic matter? according to evolution organisms are subject to change.

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