The following pedigree represent a disease that is rery 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? SHOWYOUR WORK A?
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- A proband female with an unidentified disease seeks the advice of a genetic counselor before starting a family. Based on the following data, the counselor constructs a pedigree encompassing three generations: (1) The maternal grandfather of the proband has the disease. (2) The mother of the proband is unaffected and is the youngest of five children, the three oldest being male. (3) The proband has an affected older sister, but the youngest siblings are unaffected twins (boy and girl). (4) All the individuals who have the disease have been revealed. Duplicate the counselors featA 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?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 if the couple wanted prenatal testing so that a normal fetus could be aborted?
- 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:.A friend tells you that her biological father has an inherited disorder determined by a dominant allele but neither your friend nor her three siblings are affected. Is this possible? If not, why not? If so, explain how it is possible. For the toolbar, press ALT+F10 (PC) or ALT+FN+F10 (Mac). BIUS Paragraph Arial 14px A V x² X, ABC 田 田 | 国田用田 Ť {;} III !!! +)Pedigree attached shows an autosomal recessive genetic disease. G is the normal allele and g is the disease-causing allele. Individual 1’s father is heterozygous (*) and his mother is homozygous dominant. Other individuals in the pedigree may be carriers, but are not marked. The question mark (?) indicates that you do not yet know anything about this individual’s phenotype with regard to the disease. part a) What is the probability that individuals 1 and 2 will have a child (5) who is a boy with the disease (the child is unborn and the sex is not yet known)? a)1/8 b)1/4 c)0 d)1/16 part b) What is the probability that the daughter (6) that individual 3 and 4 just had will have the disease? a)1/8 b)1/6 c)1/4 d)1/12
- Consider this pedigree showing an autosomal dominant rare disorder. What is the degree of penetrance? Show your work. na оп 16 19 fa 16 R 9XIn 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 || IV V 5600 orize 077808 15 10 9 10 CHO વ 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 does not display the disease phenotype. Carriers of the disease are not indicated. Information on disease status is not known for generation I and is omitted for the individuals represented by a symbol with an asterisk.…|| AB ||| 1 AA 0₂ AA 0₁ In this pedigree A and B represent alleles at a marker locus very closely linked to the disease locus. Affected individuals are shown as shaded. The disease status in III 1 (a female of 10 years) is unknown as yet as the disease does not onset until teenage years or soon after. Which of the following is correct? 2 AB BB OA. The probable pattern of inheritance shown by the disease in this family is autosomal recessive. OB. If recombination does not occur the probability that III 1 will be affected if she has an AB marker genotype is 1. OC. If recombination does not occur, the probability that III 1 will be affected if she has a BB marker genotype is 1. OD. If the recombination fraction between the disease and marker loci equals 0.04, the probability that III 1 will be affected if she inherits an AB marker genotype equals 0.96. OE. The probable pattern of inheritance shown by the disease in this family is X-linked recessive.
- Complementation tests are performed in the (F1/F2/dominant/recessive/affects/does not affect) progenyof two (F1/F2/dominant/recessive/affects/does not affect) true-breeding mutants.If the two mutants are affected in different genes, the map distance between the twogenes (F1/F2/dominant/recessive/affects/does not affect) how often complementation is observed.A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?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