The pedigree at right shows the expression of a dominant mutation. What is the probability that the child of II-3 and II-4 will express this trait? I II Select one: a. 1/4 b. 0 O c. 1 d. 3/4 e. 1/2 12 3 456
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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?Help me create a pedigree of this information: Pedigree analysis: Generation 1: Normal parents (AA x AA) Generation 2: Carrier parents (AA x AS) Generation 3: Affected child (AS x AS) Generation 4: Affected grandchild (SS) This pedigree has two normal parents in the first generation. Second generation carriers carry the sickle cell trait from one parent. The disease is 25% more likely to be inherited in the third generation if both parents have the 'S' allele. If both parents have the 'S' allele, their children will have sickle cell anemia in the fourth generation
- Please consider the pedigree below. There are no cases of false paternity. I II III IV в 1 a. Which individual/s definitely has/have Bombay phenotype in the descendants of I-1 and I-2? b. What are the genotypes of individuals II-2 and III-2 at the AB0 and H loci? Please label your answers a and b, Il-2: and Ill-2:.In this case a family history revealed a genetic basis for the disorder. The pedigree is shown in Fig. 1 Below. Key Ø Female: affected Female: unaffected I || IV V TOLO 5 DO 머 9 10 a. Any of these options is possible b. III.5 but not V.3 would display the disease O c. V.3 but not III.5 would display the disease O d. Neither III.5 nor V.3 would display the disease Oe. Both III.3 and V.3 would display the disease 10 ન Male: affected Male: unaffected Deceased Disease status not given Dizygotic twins Monozygotic twins Fig. 1 Disease pedigree. Five generations I, II, III, IV, V are shown. Females are represented by circles, males by squares, dizygotic (non-identical) twins by diagonal lines originating from the same point, Monozygotic (identical) twins by diagonal lines originating from the same point and joined symbols and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype. Unfilled symbols indicate that the individual…The pedigree below shows the phenotypes of the ABO blood groups and Rhesus factors [positive (+) and negative (-)] for several members of a family. I (B+ AB- 1 2 3 4 II O- A+ В- B- AB+ A+ 1 2 4 5 6 a. What are the ABO blood group genotypes of individuals I-1 and I-2? b. Which child/ren of individual I-4 can donate blood to him? c. Which individual in the pedigree can donate blood to all the other individuals in the pedigree?
- Please consider the pedigree below. There are no cases of false paternity. I B II A 2 3 III AB (A IV в 1 a. Which individual/s definitely has/have Bombay phenotype in the descendants of I-1 and I-2? b. What are the genotypes of individuals II-2 and III-2 at the ABO and H loci?Congenital hypertrichosis (CH) is a very rare X-linked dominant inherited condition. CH is characterized by the growth of dark hair over the body. CH is so rare, only 50 cases have been identified since the Middle Ages. The incidence of this condition is considerably higher in a small Mexican village (from which the partial pedigree below is derived) than the rest of the human population. I II III Use the following information to answer the two questions. IV D II-4 8 9 IV-6 0=10~ 11 1. Using appropriate nomenclature, identify the genotypes for the following 2 individuals: 12 13 your response must include an appropriate legend/key to identify allele symbols. 2. Show how a Punnett square (using the allele symbols from the previous question) is used to determine the probability in percent of individuals III-11 and III-12 next offspring has CH?The following pedigree represent a disease that is very rare in the human population and completely penetrant. What is the mode of inheritance? What is the probability that a child indicated with an "A" will inherit the disease? SHOW YOUR WORK. A? Enr the toolhar prees Al T+F10 (PC)gr ALT+EN+F10 (Mar)
- PLEASE ANSWER THE FOLLOWING LETTERS: a,b,c, and d Examine the pedigree of the McGraw family shown below. Certain individuals in this family are affected by a brain condition that makes them more susceptible to vertigo. As a genetic counselor, you interview the family and draw DNA samples. You discover that the condition is caused by a mutation that changes the sequence 5’GCATTC3’ to 5’GAATTC3’ introducing an EcoRI cut site. You decide to amplify a 1200bp fragment from the DNA that spans this mutation and then digest it with EcoRI. You run the results on a gel next to a marker that shows bands at 2000bp, 1200bp, 900bp, 800bp, and 400bp. Some individuals from the pedigree are identified on the gel.The pedigree shows inheritance of an autosomal recessive disease in an extended family. Assume unrelated individuals marrying into the family do not carry the disease, unless there is reason to believe otherwise. What is the chance that IV-3 and IV-4 will have a child with the disease? Individuals I-1, Il-5, III-5 and III-16 have the disease. 2 1 7. III-18 2 3 5 6 17 8. 9 10 11 12 13 14 15 16 17 III-19 IV IV-3 IV-4 IV-5 IV-6 IV-1 IV-2 O a. 1/8 b. 1/12 C. 1/16 d. 3/16 e. 1/24 f. 1/32 g. 3/32 h. 1/64 FEB 17 MacBook Air 6, ... 5. %D1. The pedigree below shows the incidence of rare, autosomal dominant disorder called Ehlers-Danlos disease. The pedigree covers three generations of a particular family and also shows individual genotypes at a potential marker locus (M). a) Indicate the phase of all gen II and III individuals. DdM1M3 ddM2M6 II DDM3M6 ddM4M5 III DdMзM4 DdMЗМ5 DDM3M4 ddM3M5 DDM3M4 ddM5M6 DDM3M4 ddM4M6 ddM5M6 ddM5M6 b) Which, if any, of the gen III individuals are recombinants? c) Calculate the LOD score as a test of physical linkage between the marker (M) and the disease locus. d) What do you conclude about linkage between D and M?