Question

The strategy used in this project (i.e. identifying the presence of SNPs through PCR) has been applied by scientists to help medical professionals treat patients with congenital disorders!

What is a specific example of a congenital disorder associated with one or more SNPs? How are the presence of SNPs used to predict outcomes and/or determine treatments?

Answer 1

Single nucleotide polymorphism is a single nucleotide muatation in a important gene that leads to gentic disease. Identification of SNP in patients with genetic disorders helps them to cure the patient by gene therapy by modifying the mutated nucleotide to the original form.

Phenylketonuria is congetial disorder in which SNP in phenylalanine hydroxylase (PAH) is the cause. It is inherited to the offspring in autosomal recessive manner that is the gene is present in autosome and will be expressed only in homozygous recessive condition.

Based on identifying the SNP, we can identify the patients and family pedigree with carriers of the disease and diseased patients that helps them to diagnose the disease and outcome of next generation kids disease condition

In terms of treatment , the gene without the mutation will be knocked in or overexpressed by injecting the wild type gene