11. What evidence do you see in the pedigree illustrated if any, allowing the mode of inheritance for this trait to be deduced as completely vs. incompletely dominant? Do not consider any other information beyond what is shown in the pedigree. Answer in one complete sentence, referring to any individuals in the pedigree who may be informative using generation and individual numbers. |||||IV1,22,21,2 2,21 2 345 6 71,2 2,2 2,2 1,2 2,2 1,2 1,281,2?2,21,2The pedigree above shows the pattern of inheritance of a vision disorder calledLeber congenital amaurosis, which is due to mutations in a gene on chromosome19 (filled symbols show affected individuals). Identification of the gene hingedon mapping it to a precise chromosomal location. Results of a small part of thatmapping effort are shown above, analyzing linkage between a SNP marker onchr. 19 and the vision disorder in this family. The numbers below each person'spedigree symbol show what alleles they have for this SNP marker.Which individual in generation III has inherited a recombinant chromosome?

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Description: 11. What evidence do you see in the pedigree illustrated if any, allowing the mode of inheritance for this trait to be deduced as completely vs. incompletely dominant? Do not consider any other information beyond what is shown in the pedigree. Answer

When neither characteristic is wholly superior to the other, incomplete dominance takes place. As a…

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What evidence do you see in the pedigree illustrated if any, allowing the mode of inheritance for this trait to be deduced as completely vs. incompletely dominant? Do not consider any other information beyond what is shown in the pedigree. Answer in one complete sentence, referring to any individuals in the pedigree who may be informative using generation and individual numbers.

What evidence do you see in the pedigree illustrated if any, allowing the mode of inheritance for this trait to be deduced as completely vs. incompletely dominant? Do not consider any other information beyond what is shown in the pedigree. Answer in one complete sentence, referring to any individuals in the pedigree who may be informative using generation and individual numbers.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 2CS: Mike was referred for genetic counseling because he was concerned about his extensive family history...

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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?
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?
Considering the following chromosome which is represented as a series of genes on each arm separated by the centromere. Describe the type of mutation required to produce each of the mutant chromosomes below. ABCDEFG*HIJKLMN
Unaffected father Camier mother XY Unaffected Afected Carrier Unaffeded Unaffected daugkter U.S. National Lbrany of Mediche Carrier Affected son daughter son In humans, as well as in many other animals and some plants, the sex of the individual is determined by sex chromosomes. The sex chromosomes are one pair of non-homologous chromosomes: XX represents a female, while XY represents a male. When a gene for a specific trait is attached to the X or Y chromosome, we say it is sex-linked, and when it is attached to the X chromosome, we say it is X-linked. Alleles for these linked traits, such as hemophilia or color blindness, crosses, may be recessive or dominant. Hemophilia is an X-linked, recessive trait. The recessive allele for hemophilia is actually a mutated version of the normal alllele but it can still be passed on through generations. Imagine a female is a carrier for hemophilia; her genotype is Xx She is married to a man who does not have hemophilia. What conclusion is NOT valid…
GENETIC DISORDERS 2 3 1. 2 3 XK XK XK X* XX xX XX KX Xe XX KK X* 3 K* K XX 8 9 10 11 12 13 14 15 8 9 10 11 12 13 14 15 ?8 ת A XX XX XX X 称家a M 16 17 18 19 20 21 22 XX 16 17 18 19 20 21 22 XXY Figure 2 Figure 1 1. Suppose a child was found to have the chromosome pattern shown in Figure 1 above. a. Is the child a male or female? b. Explain your answer. c. Down syndrome is caused by one extra autosome in each cell. What pair of chromosomes has an extra chromosome? d. How did this child get an extra chromosome? 2. Suppose a child was found to have the chromosome pattern shown in Figure 2 above. a. Is the child a male or female? b. Explain your answer. e. Which chromosome is the extra chromosome, an X or Y7 d. How did the child get an extra chromnseme?
2 3 4 5 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 ху Which chromosome set has an extra What diagnosis would you give this patient?. Finish the notation for this patient's karyotype: What causes a dark band on the chromosome? What is a centromere?
Using the pedigree below for an autosomal dominant disorder to determine the phase (which ones are recombinants and which are non-recombinants? Identify them by pedigree position (11, 112, etc.) (SLO4) 1 11 III 2/2 1/2 1/1 -O 2/12 2/2 2/2 2/2 2/2 1/2 2/2 1/2 2/2 1/2 2/2 a. 0.01 b. 0.1 c. 0.2 Calculate the LOD score for each theta below for the pedigree above. Note: keep lots of places behind the decimal until the very end for accuracy. (SLO4)
Referring to image of chromosome 16 below, indicate the exact location of the genes labeled a-k:
Neurofibromatosis 1 is considered an autosomal dominant disorder because the gene is located on the long arm of chromosome 17. It is caused by microdeletion at the long arm of chromosome 17 band 11 sub-band 2 involving the NF1 gene. Group of answer choices Statement 1 is correct. Statement 2 is incorrect Statement 1 is incorrect, statement 2 is correct Both statements are incorrect Both statements are correct
X-linked Recessive Inheritance A gene is described as X-linked when it occurs on the X chromosome and not the Y. Our convention is to indicate X-linkage by attaching the appropriate gene symbol as a superscript on the letter X. Commonly, the wild-type (+) allele is indicated with only a "+" to avoid having to type a superscript on a superscript. For example, a female that is heterozygous and carrying a recessive mutant allele is indicated as X+Xm. Note the convenience of the shorthand + for m+ in this situation. A mutant male has the genotype XmY. When working with X-linked inheritance, always include the X and Y chromosomes in the descriptions of genotypes, and include the sex (male or female) in the descriptions of the phenotypes (e.g., mutant male, wild-type female, etc.). Here are the genotypes and associated phenotypes for X-linked recessive inheritance: X+X+ Wild-type female X+Xm Wild-type female xmxm Mutant female X+Y xmy Wild-type male Mutant male
14 133 12 11 12 11 11 112 12 131 132 14 15,1 152 Coondinates This is a diagram of chromosome 17. What is the cytogenetic coordinates of a gene at the Indicated location?