Abigail Griffith- Ph... KAbigail Griffith - DN... 100% Genetics Glencoe Reading Essentials.pdf ements, people se, but there a dominant eople with os. They Think it Over 3. Explain How can scientists determine if achondroplasia developed from a new mutation? a have ant, parents pre, when plasia, the ace -A pedigree . In the tal line are oldest to Picture This ions-I for numbers are 4. Evaluate Circle the carriers in the second tion

Abigail Griffith- Ph... KAbigail Griffith - DN... 100% Genetics Glencoe Reading Essentials.pdf ements, people se, but there a dominant eople with os. They Think it Over 3. Explain How can scientists determine if achondroplasia developed from a new mutation? a have ant, parents pre, when plasia, the ace -A pedigree . In the tal line are oldest to Picture This ions-I for numbers are 4. Evaluate Circle the carriers in the second tion

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 7QP

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A particular disease is found in a group of South AmericanIndians. During the 1920s, many of these people migrated toCentral America. In the Central American group, the diseaseis never found. Discuss whether or not you think the diseasehas a genetic component. What types of further observationswould you make?
Diamond–Blackfan anemia (DBA) is a rare, dominant geneticdisorder characterized by bone marrow malfunction, birthdefects, and a predisposition to certain cancers. Infants withDBA usually develop anemia in the first year of life, have lower thannormal production of red blood cells in their bone marrow, and havea high risk of developing leukemia and bone cancer. At the molecularlevel, DBA is caused by mutations in any one of 10 genes thatencode ribosomal proteins. The first-line therapy for DBA is steroidtreatment, but more than half of affected children develop resistanceto the drugs and in these cases, treatment is halted. DBA canbe treated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers. Transplantsfrom unrelated donors have significant levels of complicationsand mortality. A couple with a child affected with DBA undergoes in vitro fertilization (IVF) and genetic testing of the resulting embryos to ensure that the embryos…
The amount of DNA inintronic regionof genes can be grwater than the amount of DNA in exons. true
Null mutations are valuable genetic resources becausethey allow a researcher to determine what happens to anorganism in the complete absence of a particular protein. However, it is often not a trivial matter to determinewhether a mutation represents the null state of the gene.a. Geneticists sometimes use the following test forthe nullness of an allele in a diploid organism: If theabnormal phenotype seen in a homozygote for theallele is identical to that seen in a heterozygote(where one chromosome carries the allele in question and the homologous chromosome is known tobe completely deleted for the gene) then the alleleis null. What is the underlying rationale for thistest? What limitations might there be in interpreting such a result?b. Can you think of other methods to determinewhether an allele represents the null state of a particular gene?
genetics, pleaseeee solve parts g and h
Clinical or phenotypic heterogeneity, in which different mutations in a gene may result in different phenotypesTRUE oR FALSE ASAP NO EXPLANATION NEEDED
Genetics in Practice case studies are critical-thinking exercises that allow you to apply your new knowledge of human genetics to real-life problems. Case study Michelle was a 42-year-old woman who had declined counselling and amniocentesis at 16 weeks of pregnancy but was referred for genetic counseling after an abnormal ultrasound at 20 weeks of gestation. After the ultrasound, a number of findings suggested a possible chromosome abnormality in the fetus. The ultrasound showed swelling under the skin at the back of the fetuss neck; shortness of the femur, humerus, and ear length; and underdevelopment of the middle section of the fifth finger. Michelles physician performed an amniocentesis and referred her to the genetics program. Michelle and her husband did not want genetic counseling before receiving the results of the cytogenetic analysis. This was Michelles third pregnancy; she and her husband, Mike, had a 6-year-old daughter and a 3-year-old son. At their next session, the counselor informed the couple that the results revealed trisomy 21, explored their understanding of Down syndrome, and elicited their experiences with people with disabilities. She also reviewed the clinical concerns revealed by the ultrasound and associated anomalies (mild to severe intellectual disability, cardiac defects, and kidney problems). The options available to the couple were outlined. They were provided with a booklet written for parents making choices after the prenatal diagnosis of Down syndrome. After a week of careful deliberation with their family, friends, and clergy, they elected to terminate the pregnancy. Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?
A set of cells that host various DNA fragments collectively representing an organisms entire set of genetic information is a _________. a. genome b. clone c. genomic library d. GMO
Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?
Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. It has been suggested that prenatal genetic testing for achondroplasiabe made available and offered to all women. Wouldyou agree with this initiative? What ethical considerationswould you consider when evaluating the medical and societalconsequences of offering…
The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?
A research paper published in the summer of 2012presented a method to obtain the whole-genome sequence of a fetus without any invasive procedure suchas amniocentesis that could on rare occasions causemiscarriage. This new technique is based on the factthat some fetal cells leak into the mother’s bloodstream and then break down, releasing their DNA.Assume that exactly 10% of the DNA fragments inthe mother’s blood serum come from the fetus, whilethe remaining 90% of the DNA fragments in the serum come from the mother’s genome.The investigators collected cell-free DNA from apregnant woman’s bloodstream and subjected it to anadvanced high-throughput sequencing method. Thetable at the end of this problem looks at seven unlinked loci; the number of reads of particular alleles(identified by Greek letters) are shown. You shouldassume for the sake of simplicity that all numericaldifferences are statistically significant (even thoughactual data are never this clean).a. Determine whether each…