Determine the difference in the phenotype of albinism among Hopi Native Americans and other types of albinism and the mutated gene resulting in those phenotypes.
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- Regarding albinism, with adavances in fields such as gene therapy and stem cell research, is there a therapeutic solution to this genetic disorder?determining coat color is the agouti gene?The gene controlling ABO blood type and the gene underlying nail-patella syndrome are said to show linkage. What does that mean in terms of their relative locations in the genome? What does it mean in terms of how the two traits are inherited with respect to each other?
- Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. Assuming that no new mutations occurred in this family, explain the presence of an autosomal recessive disease in the child…Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. How might you go about proving your explanation? Assume that a number of genetic markers are available for each chromosome.describe the most likely cause of a heritable phenotypic change in some members of a population of asexually reproducing organisms. Explain how repeated exposure of the artesunate-sensitive Plasmodium strain to increasing concentrations of artesunate led to the development of the artesunate-resistant Plasmodium strain.
- Figure illustrates albinism in two different species. Describetwo other genetic disorders found in both humans and animals.a. What type of plot is this? What do the little dots above the dotted line represent? b. The labels above the peaks represent human gene names involved in ALS. Based on the data shown here, which would be the first gene you'd like to investigate further and why?Wild-type strains of the haploid fungus Neurospora canmake their own tryptophan. An abnormal allele td renders the fungus incapable of making its own tryptophan.An individual of genotype td grows only when its medium supplies tryptophan. The allele su assorts independently of td; its only known effect is to suppress the tdphenotype. Therefore, strains carrying both td and su donot require tryptophan for growth.a. If a td ; su strain is crossed with a genotypically wildtype strain, what genotypes are expected in the progenyand in what proportions?b. What will be the ratio of tryptophan-dependent totryptophan-independent progeny in the cross of part a?
- We often speak of diseases such as phenylketonuria (PKU) andachondroplasia as having a genetic basis. Explain whether the followingstatements are accurate with regard to the genetic basis ofany human disease (not just PKU and achondroplasia).A. An individual must inherit two copies of a mutant allele to havedisease symptoms.B. A genetic predisposition means that an individual has inheritedone or more alleles that make it more likely that she or he willdevelop disease symptoms than other individuals in a populationwill.C. A genetic predisposition to develop a disease may be passedfrom parents to offspring.D. The genetic basis for a disease is always more important thanthe environment.The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: Using the left-hand menu to view the sequence for IGLL1, what are the last 12 nucleic acid bases of exon 1?The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in amino acid residues of the IGLL1 transcript named IGLL1-203? NOTE: Please give your answer as a number, not a word, and do not type the units.
