Answered: Identify the type of trait(s) in the…

Identify the type of trait(s) in the pedigree below * autosomal recessive autosomal dominant X-linked dominant X-linked recessive Y-linked

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 5QP: Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of...

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Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
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?
Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?
BIU A- == 三E 12 - Match each of the following examples to the appropriate type of non-Mendelian inheritance. 1. A homozygous recessive genotype for the gene that encodes phenylalanine hydroxylase (which breaks down the amino acid phenylalanine) causes lighter skin color, a musty odor, differences in intellectual development, and seizures. 2. In pea plants, alleles of Gene W control flower color, with the dominant allele (W) leading to purple flower.color, and the recessive allele (w) leading to white flower color. Usually, a genotype of WW or Ww leads to purple flowers. However, when Gene C is homozygous recessive, WW or Ww plants always have white flowers. 3. In mallard ducks, feather coloring is controlled by Gene F. A dominant allele (F) leads to green head feathers, while a recessive allele (f) leads to brown head feathers. In male mallards, inheritance of one or more F alleles always leads to the green head feather trait. But female mallards always have brown head feathers,…
In the human pedigree shown below, black filled symbols indicate individuals suffering from a rare genetic disease, whereas empty symbols represent people who do not have the disease. Based on the pedigree, what is the most likely mode of inheritance of this rare genetic disease? O Y-linked OX-linked dominant Autosomal recessive O Autosomal dominant OX-linked recessive
What is the most likely inheritance pattern shown in image B, below? B A E KEY Homozygous Homozygous Heterozygous Heterozygous Wild Type Male Female Male Female Male Note: Completely red symbol denotes an individual exhibiting the phenotype of interest CI 11 III IV V 1/4 A Autosomal Dominant Autosomal Recessive Sex-linked Dominant Sex-Linked Recessive Mitochondrial 1/2 1/2 1/2 1/2 Wild Type Female 1/4 1/2 B Affected Known carrier Affected female Normal female Affected male Normal male
Y-linked ㅁㅇ O ㅇㅁ In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. Autosomal Recessive Autosomal Dominant X-linked Recessive X-linked Dominant ◆ 마음 (>> 01
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
70 T 꿈 ㅁ ㅁ 이어어어어어어 In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. Y-linked Autosomal Recessive Autosomal Dominant X-linked Recessive X-linked Dominant ()
(a) Enter the parent phenotypes and complete the Punnett square Inheritance of sex linked recessive tralts Example: Hemophilia Female paront phenotype Inheritance of hemophilia is sex linked. Males with the recessive (hemophilia) allele, are affected. Females can be carriers. (normal female) Xxh (carrier female) ben-N werxhxh (hemophiliac female) leizobXY (normal male) xhy (hemophiliac male) Male parent phenotype: Using the codes: XX eggs (a) Enter the parent phenotypes and complete the Punnett square for a cross between a normal male and a carrier female. sperm (b) Give the ratios for the phenotypes from this cross. Phenotype ratios: Inheritance of sex linked dominant traits Example: Sex linked form of rickets A rare form of rickets is inherited on the X chromosome. Using the codes: XX Female parent phenotype: alvo eo (normal female); XY (normal male) (affected heterozygote female) XRXR (affected female) XRY Male parent phenotype: XRX eggs (affected male) Nor a cross between an…
In the human pedigree shown below, black filled symbols indicate individuals suffering from a rare genetic disease, whereas empty symbols represent people who do not have the disease. Based on the pedigree, what is the most likely mode of inheritance of this rare genetic disease? Hodo O X-linked dominant OX-linked recessive O Autosomal dominant O Autosomal recessive Y-linked