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- Albinism is a recessive autosomal trait for skin pigmentation. Hemophilia is a sex-linked recessivedisorder of the blood. assign alleles to the traitsA – normal skin pigmentation X H – normal blooda – albino X h - hemophilia A double heterozygous woman marries a non-hemophilic man and heterozygous for skinpigmentation. Double heterozygous means heterozygous for both traits. Aa for skin pigmentation andX H X h for blood trait. Therefore, the genotype of the woman is AaX H X h . Non-hemophilic man is X H Y and heterozygous for skin pigmentation is Aa. The genotype,therefore, of the man is AaX H Y. What is the probability that they will have:a. a child with normal skin? _____________________b. a child with normal blood? _____________________c. an albino girl? _____________________d. A hemophilic boy? _____________________AaBbCcDc AaBbCcD Ac Heading 1 Heading 2 Title Subtitle Subtle Em.. Emphasis Intense E... Strong Quote Int Paragraph Styles 4 Genetic Inheritance Patterns Retinitis pigmentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. gene from your Mom and one from your Dad). Autosomal means it is not Question below short answer approach image you are the genetics counselor, should Eric have children? Imagine he has a daughter (he has two, but both are adopted). What advice would you give Eric if his wife was a carrier from a genetics counseling viewpoint? Describe all the possibilities,…5. A womall WIl 6. A man with type AB blood is married to a woman with type 0 blood. They have 2 natural children and one adopted child. One child has type A blood, one has type B blood and the other has type O blood. Which child was adopted? 7. Below is a pedigree for a family in which some members have achondroplastic dwarfism. This is inherited as an autosomal dominant. Individuals shaded on the pedigree have achondroplastic. you to be 5 fingers? usually results in death in-utero. Complete the
- Could the characteristic followed in the pedigree be caused by an autosomal dominant disease? Why or why not? 3 4. O No, the offspring of 1-3 and I-4 contradict an autosomal dominant inheritance O No. the offspring of 1-1 and I-2 contradict an autosomal dominant inheritance O Yes, all individuals fit the autosomal dominant inheritance pattern ONo, the offspring of II-3 and -4 contradict an autosomal dominant inheritanceer What is the most likely mode of inheritance for this trait? I TO 2 2 3 8 9 10 1 DOD 1 2 3 OX-linked dominant OX-linked recessive O Y-linked O autosomal recessive O autosomal dominant IV 1 3 5 6 4 5 6The probable mechanism of inheritance of the syndrome shown in the pedigree is: Autosomal recessive O A. Sex linked dominant OB Autosomal dominant Sex-linked recessive
- BB AB AB A. None B.3 с.1 D.2 ВВ OE. The father AB In the pedigree presented above, an autosomal dominant disease which causes significant visual loss and eventual blindness, is segregating in the family. The disease gene causing this sight loss looks as if it may be linked to a marker locus. The alleles of this marker locus that are present in this family are allele A and allele B. Are there any recombinant individuals in this pedigree? AB ВВ AB ВВ AB ВВ AB AB ВВFAlpQLSfiOhfAvlhxzCSiUll_6rt-nU5b0WI73UmWOxkOw8OCwk01ng/formResponse B 1 2 Bb x Bb b 4 The fur in both parents in this cross is * 1 B B Bb x Bb b 3 4 brown black O homozygous dominant homozygous recessive 3. 近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?
- 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?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?Examine the following pedigrees. Which is the most likely mode of inheritance of each disorder? (a) autosomal recessive (b) autosomal dominant (c) X-linked recessive (d) a, b, or c (e) a or c 10.