Question

Based on the Huntington disease which has the gene of HTT gene. Answer the following questions:

1a) Is the gene exonic or not?,

1b) what  type of variant (SNP of CNV) and if the resultant changes in protein or protein level.

2) Is the variant found in the non-coding region and also is it involved in transcriptional regulation, if so describe the proposed pathway.

3) Draw a three-generation pedigree with at least 15 family members.

4) A narrative describing the pedigree of the disease.

5)Description of genomic/epigenomic/cytogenetic/transcriptomic/proteomic characterization/detection of disease (how is the genetic cause determined)

6) Give a flow chart for determination of the genetic cause at the clinical level (i.e. phenomic upon the first presentation to the clinic to confirmation of genetic disorder).

Answer 1

1a. HTT gene is exonic.

1b. It a CNV(copy number variant in which specific regions of the genome are repeated).CNV's usually show linear relationship with the protein expression levels.

2. HTT variant is found in coding region, (CAG repeats are located at 5' end of HTT gene) which code for Huntingtin protein.

answer 2,3,4(in image)