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Anatomy and Physiology of Special Sensory Organs
Sensory organs can be labeled as special sensory structures that permit sight, hearing, odor, and flavor. Sensory structures permitting proprioception, touch, thermal, and pain perception can be classified as more advanced sensory organs. The sensory neurons are trained to find out modifications in the external and internal conditions so that a person's body can react to that change. A stimulus is the first signal that is recognized by any sensory receptor of the body. Stimulus is an impulse generated when there is a change in the surroundings of a person. For example, a heated environment will alert the brain through the thermal sensory organs and generate a reflex accordingly.
Sensory Receptors
The human sensory system is one of the most complex and highly evolved structures, which processes a myriad of incoming messages. This well-coordinated system helps an organism or individual to respond to external stimuli, appropriately. The sensory receptors are an important part of the sensory system. These receptors are specialized epidermal cells that respond to external environmental stimuli. These receptors consist of structural and support cells that form the peripheral unit of the receptor and the neural dendrites which receive and detect the external stimuli.
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- A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?You met with two parents whose first child has sickle cell anemia. (The parents show no signs of the disease themselves). The mother comes to you in the third month of her second pregnancy, and wants to know if this child will also inherit the disease. As a genetics counselor, you are ready to evaluate this couple’s case by doing the following:1. Determine what the genotype of each parent is. Is this disease autosomal or sex-linked? Dominant or recessive?
- Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.IImagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well. Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discuss
- Blood types A and B are codominant, O is recessive. Rh factor is determined by a different gene. The allele for a positive Rh factor is dominant over the allele for a negative Rh factor. Based on this information, can a person with O+ blood have two parents with O- blood? Explain 7. Part II - Based on your results, what information could you provide the court that may be helpful in the case. (Show your analysis (Punnett squares) for determining who the father is.)Part VI: Discussion 1. Write the genetic designation for: a. a male b. a female 2. Which parent determines the sex of the offspring in humans? Explain. 3. Explain the term "autosomal." 4. In humans, right-handed is dominant to left. Free earlobes are dominant to attached. These are autosomal characteristics. A right-handed man with attached earlobes whose mother was lefthanded marries a left-handed woman with free earlobes whose mother had attached earlobes. You are the genetic counselor. Construct a Punnett square to determine the types of children this couple could produce.I'm stuck on A1. Question what notation would you use to characterize patient a's karyotype? I put 45, xx/xy +13 but I'm not sure
- In a paternity case a single mother claimed that a certain man was the father of her baby. The man denied it claiming that her current boyfriend was the father. The court ordered a blood test (cheaper than dna testing) to see if he could be ruled out as the father. The mother is type O and the baby was type O the man was type AB. What is the possible genotype of the biological father? A. Heterozygous Type A B. Homozygous Type A C. Heterozygous Type BConsider this pedigree showing an autosomal dominant rare disorder. What is the degree of penetrance? Show your work. na оп 16 19 fa 16 R 9XExplain the following diagram. It refers to a pedigree on the disease called phenylketonuria. Briefly explain about the disease; specifically biochemical and genetic aspects. Then I interpret the pedigree. Say what type of inheritance the condition exhibits