question is attached Members of a family are affected by aO co-dominancehereditary inflammatory andO dominant negative mutant alleleimmun odeficiency disease. The diseasephenotype wa s due to a mutation in thePLCG2 gene, determined by comparingan affected father and an affectedO gain-of-function mutationO haplosufficent wildtype alleledaughter, both heterozygotes, with thehomozygous unaffected mother (Zhouet al, 2012). The wild-type protein actsO haploinsuffient wildtype alleleO leaky mutant alleleto regulate various im mune andinflammnatory pathways within the cell.The variant protein is over expressedO loss-of-function mutation(more abundant), leading to increasedOnull mutant alleleintracellular signaling and leading toO partial dominanceincreased inflammation and reducedimmunity in the affected people. SelectO simple dominanceall the statements below that can becorrectly applied to this system. [Hint:There are FOUR.]O the mutant allele is hypermorphicO the mutant allele is neomorphic

Autoinflammation is a disease caused by mutations in the PLCG2 gene. People with such conditions…

Members of a family are affected by a Oco-dominance hereditary inflammatory and Odominant negative mutant allele immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the Ogain-of-function mutation O haplosufficent wildtype allele Ohaploinsuffient wildtype allele homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and O leaky mutant allele inflammatory pathways within the cell. The variant protein is over expressed Oloss-of-function mutation (more abundant), leading to increased Onull mutant allele

Members of a family are affected by a Oco-dominance hereditary inflammatory and Odominant negative mutant allele immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the Ogain-of-function mutation O haplosufficent wildtype allele Ohaploinsuffient wildtype allele homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and O leaky mutant allele inflammatory pathways within the cell. The variant protein is over expressed Oloss-of-function mutation (more abundant), leading to increased Onull mutant allele

Biology: The Unity and Diversity of Life (MindTap Course List)

14th Edition

ISBN:9781305073951

Author:Cecie Starr, Ralph Taggart, Christine Evers, Lisa Starr

Publisher:Cecie Starr, Ralph Taggart, Christine Evers, Lisa Starr

Chapter13: Observing Patterns In Inherited Traits

Section: Chapter Questions

Problem 1DAA

See similar textbooks

Similar questions

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
The XG locus on the human X chromosome has twoalleles, XG+ and XG. The XG+ allele causes the presence of the Xg surface antigen on red blood cells,while the recessive XG allele does not allow antigento appear. The XG locus is 10 m.u. from the STSlocus. The STS+ allele produces normal activity ofthe enzyme steroid sulfatase, while the recessive STSallele results in the lack of steroid sulfatase activityand the disease ichthyosis (scaly skin). A man withichthyosis and no Xg antigen has a normal daughterwith Xg antigen. This daughter is expecting a child.a. If the child is a son, what is the probability he willlack Xg antigen and have ichthyosis?b. What is the probability that a son would have boththe antigen and ichthyosis?c. If the child is a son with ichthyosis, what is theprobability he will have Xg antigen?
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?
Glucose-6-phosphate dehydrogenase deficiency/G6PDD (g) is an X-linked recessive conditionwherein the red blood cells of affected individuals undergo premature hemolysis. Fragile X syndrome(F), on the other hand, is an X-linked dominant mutation characterized by a mild to moderateintellectual disability. Amelogenesis imperfecta (A) is a congenital disorder affecting the formation ofthe teeth enamel making affected individuals at higher risk for dental cavities and related problems.Only male offspring inherit this condition. Jane is heterozygous for both X-linked traits like her mother. Her father is normal for both X-linked traits. James has a mother who suffers from G6PDD but not from fragile X-syndrome. His fatherdoes not exhibit any X-linked disorder but has amelogenesis imperfecta. A. What are the genotypes of the following: Jane: ______________________ James: ______________________Jane’s mother: _________________ James’ mother: ________________Jane’s father: __________________…
In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?
In 1952, an article in the British Medical Journalreported interesting differences in the behavior ofblood plasma obtained from several people who suffered from X-linked recessive hemophilia. Whenmixed together, the cell-free blood plasma from certain combinations of individuals could form clots inthe test tube. For example, the following table showswhether clots could form (+) or not (−) in variouscombinations of plasma from four people withhemophilia:1 and 1 − 2 and 3 +1 and 2 − 2 and 4 +1 and 3 + 3 and 3 −1 and 4 + 3 and 4 −2 and 2 − 4 and 4 −What do these data tell you about the inheritance ofhemophilia in these individuals? Do these data allowyou to exclude any models for the biochemical pathway governing blood clotting?
A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…
Spherocytosis is an inherited blood disease in whichthe erythrocytes (red blood cells) are spherical insteadof biconcave. This condition can be inherited in adominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical redblood cells as defective and removes them from thebloodstream, leading to anemia. The spleen in different people removes the spherical erythrocytes withdifferent efficiencies. Some people with sphericalerythrocytes suffer severe anemia and some mild anemia, yet others have spleens that function so poorly nosymptoms of anemia exist at all. When 2400 peoplewith the genotype ANK1 ANK1+ were examined, itwas found that all of them had spherical erythrocytes,2250 had anemia of varying severity, and 150 had nosymptoms. (Assume that ANK1 ANK1 homozygotesdo not exist.)a. Does this description of people with spherocytosisrepresent incomplete penetrance, variable expressivity, or both? Explain…
A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a father who has the X-linkedskin condition called anhidrotic ectodermal dysplasia. The mother’sskin is completely normal with no signs of the skin abnormality.In contrast, her son has patches of normal skin and patchesof abnormal skin. Question: Using the appropriate genetic terminology, describe themeiotic mistake that occurred. Be sure to indicate in whichdivision the mistake occurred.
Epistasis is most accunately defined as: A.the genotype of the mother determining B. the alleleo of one gene Rraoking the dominant alleles of another C. inactivation defined as: the offaing phenotype of of the allele from one parent and express ion from the other D.la single gene affecting a single hrait E.the inhaitance of hoo or more chromosome genes close on the same together
A 31 year old woman consults her physicain because she is concerned about developing breast cancer. She is currently in good health and she has never had any breast disease. Her concem arises bacause her sister has just been diagnosed as having breast cancer and her mother died of breast cancer. How can one determine if the cancer in this family is likely to be a dominantly inherited predisposition? b. What is the woman's cahnce of developing breast cancer? а.
tl ban o a rne dononant allo le dD), ifs dccessrveallele (h) produces aght bour Another gene has wo alclcs Cm) dork boir n dominant over (b) bionde, A woman ith wooly, blonde lour roarmesan with stranght, dark hai heir daughteT has straight, blonde t What phenorypes and in what proportions can they expcct among fture children? o H X h & 7. The color in Labrador retrievers is an example of epistasis. The two alleles for the pigment gene are: (B) for black coat and its recessive counterpart (b) for chocolate coat. A different autosomal gene affects the expression of color in the coat and has two alleles, (E), which allows the expression of color, and (e), which is epistatic and blocks the expression of the B/b gene. The epistatic allele is recessive and is only expressed as a yellow color in the homozygous condition (ee), regardless of the B and b genotypes. A completely homozygous black lab was mated to a yellow lab, homozygous for the chocolate allele. Their offspring will be the F1…