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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 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. 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?
- d/1n5NtidRwTwUzcDkDPi5Z9P SHPZ9IA-XH-pfftLbhNc/edit 1) @ Is Add-ons Help Last edit was 15 minutes ago | Calibri в I UA 12 + 3I | II 6 1 I 7. Construct a Punnett square for a cross between two heterozygous pea plants with violet flower color. a. What genotypes would you expect in the offspring? b. What percentage or ratio of each genotype would you expect in the offspring? !!!d/e/1FAIPQLSCDH_No2]MEaHUdrt5NWa2uY6AaKa7Bhy4xfhwplF-CsVAbyA/formResponse M Gmail YouTube O Maps Which phrase best describes a human with the chromosomes represented in the karyotype below? * 1 3 4 5 X r8 K* XX从 6. 8 9. 10 X* ** ** 11 12 13 14 15 16 17 18 19 20 XX 44 21 22 XX O A female who exhibits Down syndrome A male who exhibits Down syndrome O A female who does not exhibit Down syndrome O A male who does not exhibit Down syndrome 8.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 9X
- Given the karyogram below, anSW Is this a male or female? female Do you see any abnormality? Yes 13 Write the karyotype (genetically speaking)|Show Comments Track Changet O Markup OptionS Track Changes wious Next Genetics Lab Exercise (by Dr. Lapik) Question 2. 田 BB = black Analyze the following dihybrid cross: Bb = black Parents: bbLI bb = white LL = short hair U = short hair Gametes: U= long hair Punnett Square: How many of the offspring are: Black, Short Black, Long White, Short White, Long Autupay Credentials Username ENNIN CitrixNormal No Spacing Heading 1 O Rep Font Paragraph Styles Editine 3. A heterozygous tall yellow plant is crossed with a homozygous short green. What will be the and phenotypes, and probabilities of the first generation? genotypes Genotype of the heterozygous tall, yellow plant Genotype of the homozygous short, green plant Genotypes Phenotypes 100% English (U.S.) III
- /d/1n5NtidRwTwUzcDkDPi5Z9P_SHPZ91A-XH-pfftLbhNc/edit (1) O pols Add-ons Help Last edit was seconds ago BIUA ミ: 12 + ext Calibri I|1 6 I 2 Section 5: Trihybrid cross and Laws of probability For a trihybrid cross, in which inheritance of alleles for three genes is tracked, drawing a Punnett square that combines all three genes may not be practical. Instead the laws of probability may be used. The product law of probabilities says that when alleles for separate genes segregate independently, we can figure out the probability of a particular combined genotype by multiplying the probability of the alleles for each gene. 13. We cross a homozygous tall pea plant with yellow, round seeds to a homozygous dwarf pea plant with green, wrinkled seeds. All the F1 offspring are all tall plants with yellow, round seeds. a. What are the expected F2 ratios (use fractions) of tall and dwarf plants? b. What are the expected F2 ratios (use fractions) of yellow and green seeds? C. What are the expected F2…How do you figure out the geno and phenotype from the info given? 2 pages out the lab but I figured once explained I’ll be able to do understand and do the rest!5 & :56M ******* 24 DIHYBRID CROSSES DRV 0 Stv T alı A @ zladenA 9160p2-id2 bns obidalbaneoviene da II\ MOD YR 21 $59A ... Create a dihybrid cross and determine the expected phenotypic percentages of the offspring of two corn plants both of which are heterozygous for colour and texture (RrTt X RrTt). Don't forget to include clear let statements, and follow the all six steps taught on solving genetics problems. insig moni nellog: bna. zoom
