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In some cases, clubfoot can be associated with other abnormalities of the skeleton that are present of birth(congenital), such as spina bifida, a birth defect that occurs when the spine and spinal cord don't develop or close property.In biology, the ear lobes of a human are generally described as a smooth, muscular outermost portion of the ear. It has substantial blood circulation as well as several nervous terminals. In humans, the major purpose of earlobe, is to keep the ears warmer and assist in the maintenence of stability.
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- Talk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.*22. Dent disease is a rare disorder of the kidney in which reabsorption of filtered solutes is impaired and there is progressive renal failure. R. R. Hoopes and colleagues studied mutations associated with Dent disease in the following family (R. R. Hoopes et al. 2005. American Journal of Human Genetics 76:260-267): II 2 3 4 5 II 3 4 5 6 7 8 IV a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.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?
- 1. The pedigree below shows the incidence of rare, autosomal dominant disorder called Ehlers-Danlos disease. The pedigree covers three generations of a particular family and also shows individual genotypes at a potential marker locus (M). a) Indicate the phase of all gen II and III individuals. DdM1M3 ddM2M6 II DDM3M6 ddM4M5 III DdMзM4 DdMЗМ5 DDM3M4 ddM3M5 DDM3M4 ddM5M6 DDM3M4 ddM4M6 ddM5M6 ddM5M6 b) Which, if any, of the gen III individuals are recombinants? c) Calculate the LOD score as a test of physical linkage between the marker (M) and the disease locus. d) What do you conclude about linkage between D and M?Fragile X syndrome why is interesting Fragile X syndrome What are the symptoms or characteristics of this disorder or trait? What is the prevalence of the trait or disorder? What are the main genetic factors? s the genetic cause of this disorder or trait known? What gene(s) have been proven to be involved? Or, if not known, what genes are thought to be involved? Is it caused by a single gene? polygenic? Multifactorial? Devote a few paragraphs to this This could be one of the longest parts of the paper, if you choose to focus on this. If multiple genes are thought to be involved, discuss the specific role of at least one of them in depth (if known). Is the gene you’re discussing thought to play a major or a minor role in the phenotype? What chromosome is it on? What protein does it code for, and how might the protein possibly contribute to the phenotype? If no genes have yet been identified, indicate this, and devote at least one paragraph to any current efforts to determine which…2) Answer the following questions given the pedigree below. Please assume that no other mutations are occurring, complete penetrance, and that the individual marked with an asterisk (*) doesn’t carry the allele causing the affected phenotype. Q3) What is the probability that individual IV-1 will be a carrier? Please explain your answer.
- Concordance studies of twins for a neurodegenerative disorder show MZ= 46% and DZ= 15%. Further studies have shown a possible link to a gene on chromosome 9, however, there are some individuals in the study who have the allele but do not develop the disorder (group 1), and there are other individuals who do not have the allele yet develop the disorder (group 2). Amita's older sister and maternal uncle have this disorder. Currently, Amita & her 2 younger brothers do not show symptoms. Amita's paternal grandfather was rumored to have this disorder. 1. Draw the pedigree for Amita's family and determine the mode of inheritance if any. 2. Explain how the 2 groups in the study could be possible? 3. What would you tell Amita about the heritability of this disorder?BRCA1 is mutated in a large percentage of hereditary breast and ovarian cancers. BRCA1 protein serves as a key enzyme in repairing DNA double-strand breaks. More than 800 mutations in the BRCA1 are clinically significant. This collection of mutations include missense mutations, small deletions, and large rearrangements that result in a protein with reduced function or no protein product. Inheritance of one mutant allele of BRCA1 is associated with 70-80% lifetime risk of developing breast cancer in females. How is this possible? Select all that apply. The loss of the mutant chromosome during mitosis A point mutation in the allele of BRCA1 inherited from the normal parent Repair of the heteroduplex region containing a mismatch between the normal DNA strand and the mutant DNA strand Nondisjunction of the normal chromosome during mitosis A deletion of the gene copy inherited from the affected parent Mitotic recombination in the region between the BRCA1 gene and the…1. The figure below shows a pedigree examining the presence of a genetic disorder across multiple generations of a family. Based off this figure, answer the following questions prompted: || IV 3 9 10 5 2 C 6 11 T 7 12 8 15 13 16 14 17 d) What is the genotype for individual #4 in this family pedigree? ||| c) Why are no family members identified as a carrier of this genetic disorder? Figure Key a) Using the figure key provided, identify which members of this family are affected by this genetic disorder in each generation. (Be sure to include sex and generation number for each individual identified). b) Is this an autosomal recessive, autosomal dominant, or sex-linked genetic disorder? Explain. Unaffected Female Unaffected Male Affected Female ||| Affected Male Female Carrier Male Carrier
- Explore chromosomal defects among humans in Ensembl at https://www.ensembl.org/index.html?redirect=no(Links to an external site.) Take a screenshot of one of your findings and describe the type of aberration and its associated phenotype. Identify the locus of gene variant(s) responsible for the disorder. Screenshot Name of chromosomal defect Type of aberration and locus of gene variant(s) Phenotype References:In a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver. 1) Is this a single gene inheritance or multifactorial disease? 2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.Discuss the following types of mutations, with reference to specific genetic disorders: i) Chromosomal deletion; ii) Reciprocal translocation; and iii) Haploinsufficiency