Medical Genetics Analytics

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MedicalGenetics Analytics

MedicalGenetics Analytics

  1. Hutchinson-gilford progeria syndrome

The disease was described by Dr. Jonathan Hutchinson and Dr. HastingsGilford in 1886 and 1887 respectively, in England (Gordon, Brown, &ampCollins, 2015). Term progeria draws from Greek words “pro”meaning premature and “geras” meaning old age. Symptoms aremanifested as aging before old age. Growth hormone treatment isemployed, but none has entirely been useful.

4. The protein is lamins and is encoded by 24 transcripts. It can bedetected by checking the overall translation of the mRNA transcriptto a gene.

5. The orthologsand paralogs types of a homolog meaning that the genes share a commonancestral origin. Orthologs emanate due to speciation, but paralogsare due to duplication.

8. It has 13exons. Generation of other transcripts takes place through splicing.Splicing results in the generation of different mRNA transcripts eachof which codes for a different amino acid and eventually protein. Itexplains the complexity of humans.

9. Most SNPs arenot disease-causing. However, SNPs that interfere with genesresponsible for transcription of particular proteins with a specificfunction could dispose one to disease (Yates, &amp Sternberg, 2013).Similarly, insertions and deletions could predispose one to diseaseif the changes in the sequence affect the expression of a proteinwith a particular function.

10. The chance ofthe baby having the mutation is zero since the different phenotypesindicate that they are each coded by different gene alleles. Sinceeach of the parents has a different allele responsible for the uniquephenotype, the chance of their baby having the mutated phenotype iszero. The answer would be different if the phenotype would be thesame.

11. Wild-typeproteins facilitate normal cell activities. It is because changes inproteins affect normal functioning.

12. The mutationis a gain of function. The genetic alteration has resulted inexpression of a different phenotype.

13. I wouldintroduce the gene alteration in the lab animal and monitor theeffect on phenotypic expression.


Gordon, L. B., Brown, W. T., &amp Collins, F. S. (2015).Hutchinson-Gilford progeria syndrome.

Yates, C. M., &amp Sternberg, M. J. (2013). The effects ofnon-synonymous single nucleotide polymorphisms (nsSNPs) onprotein–protein interactions. Journal of molecular biology,425(21), 3949-3963.

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