Answer this please **Cystic Fibrosis Gene Mutation Analysis**Many different mutations in the CFTR gene have been identified that lead to cystic fibrosis (CF), an autosomal recessive disorder, in humans. By comparing the sequences of the CFTR gene from a healthy individual and a diseased individual, a specific nonsense mutation at position 24 in the diseased individual was identified. To detect this mutation, two oligonucleotides are designed: one that hybridizes specifically to the mutant version of the gene, and another that hybridizes specifically to the wild-type copy. These oligonucleotides are used in an ASO (allele-specific oligonucleotide) assay to analyze genomic DNA from a family with a history of cystic fibrosis.**Pedigree Diagram Explanation**- **I.** Generation I includes individuals labeled as 1 and 2.- **II.** Generation II includes individuals labeled 1, 2, and 3; individual II-3 is indicated with a filled-in circle, representing an affected female.**Part 1: ASO Blot Analysis**For individual II-3, ASO test results for wild-type and mutant probes are given to determine the presence of mutations. Individual II-3 has a son with a man who does not have CF and is not a carrier.**ASO Test Results**- **Wild type:** Individual II-3 shows an empty circle, indicating no wild-type gene presence.- **Mutant:** Individual II-3 shows a filled circle, indicating the presence of the mutant gene.In the ASO blot shown, individuals II-3, II-4, and III-1 are assessed. Correctly complete the genotypes for the father (II-4) as non-carrier and the son (III-1), based on their genetic status.**Visual Diagram:**A diagram depicting the test results:- **i) II-3:** Mutant - black filled- **ii) II-4 and III-1:** Wild type - empty circles (to be confirmed based on genetic explanation).By providing these visual and textual explanations, educational comprehension is encouraged regarding genetic analysis methods used in cystic fibrosis diagnosis.

Name: Answer this please **Cystic Fibrosis Gene Mutation Analysis**Many diff
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: Answer this please **Cystic Fibrosis Gene Mutation Analysis**Many different mutations in the CFTR gene have been identified that lead to cystic fibrosis (CF), an autosomal recessive disorder, in humans. By comparing the sequences of the CFTR gene fro

Cystic fibrosis is an autosomal disease meaning the person possessing the disease has both the alleles mutated. The normal ones are those which are either homozygous dominant or heterozygous. The person who is a carrier or a heterozygous would have one alelle normal that is dominant and the other one recessive. Individual II 3 who is a female is affected. Hence her genotype would be "aa". Individual II 4 who is a male is normal and is also not a carrier. Hence his genotype would be AA. Now let's see the probability of their son getting the disease or being normal. AA x aa A a a Aa Aa a Aa Aa So there is 100% probability of their son being normal but carrier having genotype Aa. Now on the probe the father and son will show wild type genotypes as determined by the cross above in the form of complete circles which are non-filled.