One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question. PLEASE GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS What is the size in base pairs of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 is

One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question. PLEASE GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS What is the size in base pairs of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 is

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Description: One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S

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 20QP: The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions....

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One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following questions ANSWER ONLY IN UPPERCASE LETTERS, NO UNITS: Using the left-hand menu to view the sequence for CACNA1S, what are the last three nucleic acid bases of exon 1?
One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following question. GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS: What is the size in amino acid residues of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 is how many amino acid residues.
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: According to the web site above, how many phenotypes is IGLL1 associated with? ANSWER: IGLL1 is associated with Blank ... phenotypes.
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 NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202? ANSWER: The NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202 is "Blank 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 base pairs of the IGLL1 transcript named IGLL-202?
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.
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?
Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.
eleven 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: According to the web site above, how many phenotypes is IGLL1 associated with?
Sickle-cell anemia is a recessive autosomal disorderthat is caused by an amino acid substitution in theβ-hemoglobin protein. The DNA mutation underlyingthis substitution is a SNP that alters a GAG codon forthe amino acid glutamate to a GTG that codes a valine.The frequency of sickle-cell anemia among AfricanAmericans is about 1/400. What is the frequency ofthis GTG codon in the β-hemoglobin gene amongAfrican Americans?
Leber congenital amaurosis (LCA) is a form of congenital blindness in humans and is known to be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. Recently a group of clinicians and scientists reported that gene therapy (gene replacement therapy) for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.
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…