Mr. and Mrs. Sanchez recently had a baby girl (Susie) and she has been diagnosed

Question

Mr. and Mrs. Sanchez recently had a baby girl (Susie) and she has been diagnosed with PNDM. Since treatment for PNDM varies depending on what the cause is, the pediatrician ordered DNA sequencing to look for mutations in genes associated with this disorder. Below are the DNA sequencing results that her pediatrician ordered.

Patient Name: Susan Sanchez

Age: 8 months

KCNJ11 gene:

1 Change found in ONE copy of chromosome 11

Nucleotide 157 G to A

This change corresponds to the first nucleotide in the 53rd codon.

Wild-type codon reads GGC

INS gene:

1 Change found in ONE copy of chromosome 11

Nucleotide 218 A to G

This change corresponds to the third nucleotide in the 72nd codon.

Wild-type codon reads CGA

Question 1: Based on the results above, what mutation do you predict is contributing to Susie

Explanation / Answer

in KCNJ11 mutataion was from G to A , which is classified under transition. : in INS gene there is mutation which changes from A to G , which is also a type of transition. as we can see that in both the cases there is a shift from A---G or G---A or ( a purine is replaced by purine ) is called transition.

Related Questions

Navigate

• Browse (All)
• Browse M
• Subjects

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.