Assume that you are a genetic counsellor and analyzing RFLP pattern for a family with three daughters to indicate the genotype of individuals for an autosomal recessive disease that causes hearing loss in people over 55 years of age. The mom and father has relatives affected with the disease. The mom is at the age of 40, the age of the father is 45, the daughters are at the age of 8, 10 and 12. The RFLP analysis was performed by using EcoRI enzyme. It is known that EcoRI cut the PCR fragment of size 1250bp once at 500th nucleotide if there is no mutation. EcoRI does not cut the PCR fragment if there is a mutation. (ALO1) Please indicate the size of the fragment1, fragement 2 and fragment 3. b. Please indicate the genotypes for the 5 family members by analyzing the given RFLP pattern. (Please use + for the presence of mutation, - for the absence of mutation to indicate the genotypes). Please indicate the carriers, affected and non-affected individuals in the family. Mom Father Daughter1 Daughter2 Daughter3 1 2

Assume that you are a genetic counsellor and analyzing RFLP pattern for a family with three daughters to indicate the genotype of individuals for an autosomal recessive disease that causes hearing loss in people over 55 years of age. The mom and father has relatives affected with the disease. The mom is at the age of 40, the age of the father is 45, the daughters are at the age of 8, 10 and 12. The RFLP analysis was performed by using EcoRI enzyme. It is known that EcoRI cut the PCR fragment of size 1250bp once at 500th nucleotide if there is no mutation. EcoRI does not cut the PCR fragment if there is a mutation. (ALO1) Please indicate the size of the fragment1, fragement 2 and fragment 3. b. Please indicate the genotypes for the 5 family members by analyzing the given RFLP pattern. (Please use + for the presence of mutation, - for the absence of mutation to indicate the genotypes). Please indicate the carriers, affected and non-affected individuals in the family. Mom Father Daughter1 Daughter2 Daughter3 1 2

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Description: Assume that you are a genetic counsellor and analyzing RFLP pattern for a family with threedaughters to indicate the genotype of individuals for an autosomal recessive disease that causeshearing loss in people over 55 years of age. The mom and fathe

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 3CS: Mike was referred for genetic counseling because he was concerned about his extensive family history...

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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?
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?
The Meeting Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and unbending a small paper clip. “Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, as she entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s see, you’d like to have a child, but you’re concerned because of your family history of cystic fibrosis.” “Yes,” Sarah replied softly. “Mike and I met at a CF support group meeting a few years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We saw the painful lives they had—difficulty breathing, the constant respiratory infections. Although the treatments for CF are better now, we just don’t know if we can…” she trailed off. “I can certainly understand your concern,” the genetic counselor responded sympathetically. “That’s where I hope to help, by providing as much information and advice as I can. I’m glad that you came to see me…
I need help on how the traits below are inherited. Either by Mendelian, Codominance, Incomplete dominance.
A. HUMAN PEDIGREE CASE ANALYSIS1. One couple has three children with the following sexes and ages: one son (40 y.o.) and two daughters (35 y.o. and 33 y.o.), all of them have normal pigmentation. Another couple has a son (35 y.o) and a daughter (20 y.o.) and all of them also have normal pigmentation. Both couples have normal pigmentation. The younger daughter from the first couple married the son of the second couple and they had three children. Their eldest daughter (5 y.o.) has normal pigmentation while their only son (3 y.o.) and one daughter (1 y.o.) have albinism. a. Draw the pedigree of this family. Follow protocols in making a pedigree. Provide the genotype of all individuals in the pedigree. Please provide also the gene notation. b. What is the mode of inheritance of this trait? c. Justify your answer in letter (b).d. For their normal daughter, what is the probability that she is a carrier? Show solution. e. If they will have a fourth child, what is the probability that the…
the Mode of Inheritance (MOI) exercises. Focus on determining the values in the colored cells. Your solutions should read as prose, not simply computations. I have provided values for two MOIs discussed in the lecture, Autosomal Dominant MOI, and X-linked Recessive where the father is affected and the mother is homozygous unaffected. Sometimes, there is confusion regarding defining the disease allele and wild-type allele for a specific mode of inheritance. In this worksheet, you'll note that the D allele is the disease allele for the Autosomal Dominant mode of inheritance. However, it is also the disease allele for the Sex-Linked Recessive mode of inheritance, where the father is affected. The point is, any letter or symbol can represent a disease allele or wild-type allele as long as you define its meaning. For example, I may use r to be the disease allele in an Autosomal Recessive mode of inheritance, and R to be the wild-type allele, or vice versa, as long as I write something like:…
The geno. pe/s of people with freckles is/are: The genotype/s of people without freckles is/are:_ O Freckles: FF; No freckles: Ff, ff O Freckles: FF. Ff; No freckles: ff O Freckles: FF ff: No freckles: Ff O Freckles, f No freckles: FF, Ff
Trivla Game Show _Make Your Own Tri ngston.schoology.com/common-assessment-delivery/start/4789189591?action=onresume&submissionld=463322566 Dillon WF g Aa v Done In guinea pigs, black hair (B) is dominant to white hair (b) and rough hair (R) is dominant to smooth hair (r). What are all the possible genotypes of a guinea pig that has black, rough hair? (Select all that apply.) O BBRR BBRr BBrr BBRR BbRr O bbRR O bbRr O bbrr O Black O White O Rough OSmooth O Rough O Smooth
Part III - Trait Analysis 1. The following pedigrees will be used to determine whether the trait is autosomal dominant or autosomal recessive. In tracing autosomal alleles, if both parents have the disorder and the offspring do not, the condition is autosomal dominant. If neither parent shows the disorder but some of their children do, the condition is autosomal recessive. A carrier is an individual who appears to be normal, but who is capable of passing on a gene for the disorder. If the characteristic is dominant, there can be no carriers because only a single gene is needed to show the disorder. Table II provides some keys for your answers. Table II - Pedigree Keys Characteristic Autosomal Dominant Autosomal Recessive Figure IV - Pedigree 1 먹어어머머 Key AA = Affected Aa Affected aa = Normal AA = Normal Aa = Carrier aa = Affected I go Q8 - Is the gene for the condition autosomal dominant or recessive? Q9 - Identify the genotype for each individual using the above table. Use A_ if…