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- 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?Duchenne muscular dystrophy is one of the sex-inherited disease. Write a report about the mutation that caused the disease, symptoms, genetics therapies, include a minimum of one human pedigree that show the diseaseWhich of the examples of genetic testing below are prognostic tests? Which are diagnostic? (a) Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer’s disease. (b) ASO testing determines that an individual is a carrier for the mutant b@globin allele (bS) found in sickle-cell anemia. (c) DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene. (d) Genetic testing in a healthy teenager identifies an SNP correlated with autism. (e) An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals a SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.
- . Discuss how Genome-wide association studies (GWAS) can be used to identify genetic risk loci for (a) diseases with complex inheritance and (b) pharmacogenomic genotype-phenotype associations. Draw on specific examples and experimental evidence in your discussion.A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?For sickle cell anemia: a) Description of the phenotype b) Description of the genetics of transmission (Dominant or recessive, autosomal or X linked, penetrance, modifiers?) c) The molecular nature of the typical causative alleles (point mutation, insertion, deletion) and their affect on the corresponding protein. d) Current Treatments and Future Please answer all parts asap
- The role of the TPMT genotype in response to treatment emphasizes the importance of pharmacogenomics. What changes in treatment would be recommended for someone homozygous recessive for TPMT, compared to someone that is homozygous dominant?Briefly explain the differences between somatic and germ line mutations. Also, tell us what kind of differences you expect to see between autosomal and X-linked mutations which lead to genetic disordersReview the process of autosomal recessive inheritance by coloring the following figures in this instance both parents are carriers of a treat to illustrate the transmission of the disorder from the parents to the children color the figures as described
- There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discussPlease Answer with reason: When counseling parents about genetic transmission of an X-linked disorder, which concept does the nurse keep in mind? a. An X-linked disorder can be traced through the paternal lineage. b. A female can only pass an X-liked disorder to a son c. A male can pass an X-linked mutation to a son or a daughter d. A male with a mutation in an X-linked gene will manifest the disease. 5) The nurse explains to parents that if both of them are carriers of an autosomal recessive genetic mutation, the chance of each child NOT inheriting the disease (affected) is a. 25% c. 0% b. 75% d. 50%Options : Sex XY mutations reversal SRY feminization