Gaucher disease is an early onset rare autosomal recessively inherited lysosomal storage disorder (LSD). An adult woman who has no symptoms but has two affected brothers is referred for genetic counselling. Which of the following is correct? Oa. Before any carrier testing is carried out the woman can be correctly informed that the probability that her first son will be affected is 1 in 4. b. With two affected brothers the probability of her being a carrier is 1. Oc. If she is a carrier then the probability that each of her sons and each of her daughters will be affected is 1 in 4. Od. The probability that she is a carrier is 1/2 Oe. The probability that she is a carrier is 2/3.
Q: Define Diffusion, Osmosis, and Semi-Permeable Membrane.
A: The premise that a cell is the basic building block of life underlies the study of cell biology,…
Q: With which kind of antibiotic (static or cidal) would you expect the MIC and MBC to be about the…
A: Introduction : MIC is the minimum inhibitory concentration of the antimicrobial agents to inhibit or…
Q: Explain the entire process of DNA replication.
A: Introduction : The biological process of producing two identical copies of DNA from a single…
Q: What is the significance of having a properly collected urine What is the drawback of routine…
A: Question : What is the significance of having a properly collected urine. Answer : Proper…
Q: Examine and describe the drop shapes which land on a plate and wax paper. Explain the difference in…
A: Water is an inorganic, transparent, tasteless, odourless, and colourless substance. It is the main…
Q: The Upper Paleolithic / Later Stone Age includes____ that are characterized by____. a. Mode Ill…
A: Introduction: In later stone age is actually upper paleolithic the modern human moved…
Q: In science, a paradigm is a: a.framework of concepts shared by a community, on which theories are…
A: Introduction A paradigm is defined as a set of theories and assumptions that comprise a worldview,…
Q: 2.(3 pts) A normal red blood cell is small and shaped like a flattened disk. The interior of a red…
A: Introduction : Osmosis is the movement of water molecules passing from a less concentrated solution…
Q: if the water potential of a dialysis is -4.0 and pressure potential was -2.0 and the solute is…
A: Introduction : The term "water potential" refers to the kinetic energy of water. When a solute is…
Q: In fruit flies, long wings (M) is dominant to miniature wings (m) and red eyes (B) is dominant to…
A: Introduction:- Genes are known as the units of inheritance. They are present on the chromosomes, in…
Q: A 12-year-old boy is brought to the physician because of increased urination and progressive fatigue…
A:
Q: glucose Glycolysis (e). This waste product is made when oxygen picks up electrons and protons: Krebs…
A: Cellular respiration can be defined as a set of metabolic processes that occurs in the cells of…
Q: Determine whether this statement is true or false: Aminoacyl-tRNA synthetase covalently links the…
A: Transfer RNA, often known by the acronym tRNA and formerly known as soluble RNA (sRNA), is an…
Q: A student sampled a population of fruit flies in which the percentage of homozygous recessive white…
A: Given the population of fruit flies, where the percentage of homozygous recessive white eyed…
Q: Based on the schematic below, illustrating the control of the hypothalamus and the pituitary gland…
A: Menstural cycle is a monthly physiological process occurs in every female after puberty. It have…
Q: etermine the responsiveness of the wild-type protein to maltose, the way by which mutation affects…
A: Prior to the reporter gene transformation, the lacZ - bacteria were mutagenized. The altered…
Q: In 1988, neurologists in Australia reported the existence of identical twins who had developed…
A: Myoclonic epilepsy is a type of epilepsy that is characterized by myoclonic seizures. Myoclonic…
Q: Mature human insulin is synthesized from a single Gene but contains two polypeptide chains (A and B)…
A: Introduction Pancreas is a holocrine gland present in our body. It has both endocrine and exocrine…
Q: How many ribosomes are required (at a minimum) for the translation of trpE and trpC from a single…
A: The tryptophan operon is made up of a collection of genes that are transcribed and encode the…
Q: what is the mode of respiration in listeria monocytogenes?
A: Listeria monocytogenes is a human pathogen, that after being ingested through intake of contaminated…
Q: Chain termination/Nonsense mutation - no a.a. that corresponds to a new base sequence; results to…
A: Introduction:- Mutations are defined as any kind of heritable change occuring in the genetic…
Q: Hormones are chemical signaling molecules produced by specialized cells and transmitted via the…
A: A hormone is a class of signaling molecules found in multicellular creatures that are transmitted to…
Q: This is an image of a lily flower. Based on your reading, please click the part of the flower where…
A: Sexually reproducing organisms produce male and female gametes. The fusion of male and female…
Q: Draw a simple schematic of a neuron and label its parts. Where does “information” usually go in and…
A: Neurons are the nerve impulse generating and conducting cells in the nervous system that are…
Q: Whare are five general reasons why scientists conduct surveys
A: A Survey is a study of behaviors, opinions, and needs of a particular group of people. In a survey,…
Q: List five characters you have that are analogous to characters with the same function but of…
A: Analogous organs are those which superficially appear similar due to their adaptation for similar…
Q: 10) A a base and a sugar. A) nucleoside B) base pair C) nucleotide D) complementary base E)…
A: According to bartleby policy we have to answer only first three multiple choice question hence…
Q: A crucial step in the regulation of many bacterial genes is the binding of RNA polymerase to DNA at…
A: The synthesis of RNAs and proteins in accordance with the instructions contained in deoxyribonucleic…
Q: One of the earliest stone tool industry is the____. This is a significant development in hominin…
A: The correct option is: d. Oldowan; led to the eventual dispersal of Australopithecus out of Africa
Q: Which of the following embryological events is involved in the formation of the ovarian follicles?…
A: Ovarian follicles are fluid filled follicles present in ovaries which remains in first meiotic stage…
Q: Q9. Here is a hypothetical evolutionary tree showing domestic and wild pigeon populations. If this…
A: Introduction Phylogenetic tree is also known as dendrogram. It is a diagram that shows the…
Q: Determine the possible explanation about generating the new kind of antibiotic for the treatment of…
A: Most people infected with toxigenic V. cholerae O1 have asymptomatic illnesses or self-limited…
Q: Mr. Grady, a 70-year-old male with a history of arthritis, is evaluated by his rheumatologist for a…
A: The inflammatory arthritis known as gout is characterized by recurring outbreaks of red, painful,…
Q: Describe at least two ways in which the contribution of mitochondrial genomes from male parents is…
A: When fathers pass their children their mitochondrial DNA (deoxyribonucleic acid), this is known as…
Q: Slime molds are ususual in their lifestyles and apperance. You might have seen one and not even…
A: Molds are tiny fungi that consume plant or animal substances to survive. Nobody knows how many…
Q: This is not giving me a direct answer on what color will the eyes be off the offspring??
A: Here homozygous condition of dominant alleles 'BB' and heterozygous condition for dominant condition…
Q: If a plant could not make glucose via photosynthesis, where would the defect show up? A. thicker…
A: Introduction Photosynthesis is a process that plays a vital role in certain living organisms.…
Q: efine hormone. Name the hormone secreted by thyroid gland. Write its function. Why is it advised to…
A: In the body, hormones act as messengers. Endocrine glands release these substances. In order to keep…
Q: Assume the DpnI digestion has failed after the PCR in the synthesis of mutated plasmid by thermal…
A: DNA that has been methylated or hemimethylated is unique to Dpn I. The majority of E. coli strains'…
Q: The only protein bound to the labeled hormone is identified in the new clear fraction. Hormone X is…
A: Hormones are the chemical compounds which are secreted from the respective endocrine glands. These…
Q: give a detail explaiantion of what hisamine and acetycholine is. Give fuctions and mehcnaims. the…
A: HIstamine and acetycholine are essentially signaling molecules. Endocrine signaling involves the…
Q: Explain in detail how the of relaxion towards Smooth muscle contraction is done by the antagonsists…
A: Body organs move mechanically thanks to the process of muscular relaxation and contraction. The…
Q: The mismatch repair (MMR) components work closely with the DNA replication machinery
A: The mismatch repair or MMR is a process by which DNA is repaired by removing the mismatched…
Q: Which statement is true concerning hominins and the archaeological record? a. There is a 10 million…
A: Human evolution is the evolutionary process, leading upon the appearance of modern human being.…
Q: Explain the importance of photosynthesis and the origins of plants for evolution.
A: Photosynthesis is the process in which the green plants make their own food by using sunlight as…
Q: What is the new DNA sequence and the corresponding new amino acid sequence of these two mutations?…
A: Mutation is any change in the DNA sequence. These are of different types for example, missense…
Q: What is specifically being observed in a Gelatin Hydrolysis Test?
A: Gelatin liquefaction can increase the invasiveness (ability to spread throughout) of microorganisms.…
Q: 1 Sarah, a trainee of the electron microscopist at the local hospital, is reviewing some…
A: mitochondria is an essential organelle of cell that general energy by phosphorylation in form of…
Q: Describe the lac operon
A: Lac operon, this concept was proposed by Jacob and Monod in 1965. An operon is a functioning unit of…
Q: Histological preparation of skin demonstrates dense unformed connective tissue. What layer of this…
A: Skin is composed majorly of Epidermis, Dermis ( papillary and Reticular), and Hypodermis. All these…
Step by step
Solved in 2 steps
- 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?Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?
- Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?Cystic fibrosis is an autosomal disease that mainly affects the white population, and 1 in 20 whites are heterozygotes. Genetic testing can diagnose heterozygotes. Should a genetic screening program for cystic fibrosis be instituted? Should the federal government fund it? Should the program be voluntary or mandatory, and why?
- The young woman shown at right has albinismvery pale skin, white hair, and pale blue eyes. This phenotype is due to the absence of melanin, which imparts color to the skin, hair, and eyes. It typically is caused by a recessive allele. In the following situations, what are the probable genotypes of the father, the mother, and their children? a. Both parents have normal phenotypes; some of their children are albino and others are not. b. Both parents and all their children are albino. c. The mother is not albino, the father is albino, and one of their four children is albino.Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?A pedigree analysis was performed on the family of a man with schizophrenia. Based on the known concordance statistics, would his MZ twin be at high risk for the disease? Would the twins risk decrease if he were raised in an environment different from that of his schizophrenic brother?
- Cystic Fibrosis (CF) is an autosomal recessive condition. Therefore, heterozygous (Cc) carriers do not display symptoms. Two parents who are carriers plan to start a family and you are a genetic counselor helping to advise them about their chances of having children affected by CF. a) Suppose the couple has 4 children, each one year apart. What is the probability that all 4 children will inherit CF? b) What is the probability that any 3 of their 4 children will not inherit CF, but 1 will be affected? c) What is the probability that their first child will not inherit CF, but the younger 3 children will inherit CF?A woman knows that her mother is a carrier of Kartagener’s syndrome (an autosomal recessive disorder). The woman does not know if either she or her husband are carriers. The couple wants to have a child, but is worried about whether or not they could have a child with Kartagener’s syndrome. Should the couple seek the advice of a genetic counselor? In other words, is there a chance they could have an affected child? If there is a chance, please make sure your answer includes the specific parental genotypes necessary to make this possible.Sickle cell anemia is inherited as an autosomal recessive condition. It also exhibits incomplete dominance in that the heterozygous genotype displays a mild form of the disease known as sickle cell trait while individuals with the homozygous recessive genotype have a severe form of SCA. A man who has severe sickle cell anemia marries a woman who suffers from a mild trait. What is the probabilitu they will have a child with severe SCA?What is the probability they will have a child with mild SCA? What is the probability they will have a normal child? Show ALL work using punnett squares.