People who carry a theoretical genetic disorder (called B-disease) can be identified from a 2kb DNA sequence. People who carry this genetic disorder have a single nucleotide polymorphism that results in a change of GTATCC to GGATCC, a site that only occurs once at nucleotide number 750 in this DNA sequence. Answer the following questions based on the information provided: (a) How can you develop a simple molecular test to identify the genetic disorder (based on the information above) ? (b) If you have carried out the molecular test (based on the information above) on a 100 individual and found that 24 were healthy (BB) and 26 were carriers (bb); 1) What is the ratio of heterozygous?   2) Show how can you identify the three types from the agarose gel ?

Human Anatomy & Physiology (11th Edition)
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People who carry a theoretical genetic disorder (called B-disease) can be identified from a 2kb DNA sequence. People who carry this genetic disorder have a single nucleotide polymorphism that results in a change of GTATCC to GGATCC, a site that only occurs once at nucleotide number 750 in this DNA sequence. Answer the following questions based on the information provided:

(a) How can you develop a simple molecular test to identify the genetic disorder (based on the information above) ?

(b) If you have carried out the molecular test (based on the information above) on a 100 individual and found that 24 were healthy (BB) and 26 were carriers (bb); 1) What is the ratio of heterozygous?   2) Show how can you identify the three types from the agarose gel ?

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Single nucleotide polymorphism (SNP) can be described as the change of a single nucleotide in a specific position on a genome. SNP can be related to genetic variation leading to different kind of diseases which can be inherited from the parents to the off springs. SNP can fall in the coding or non-coding regions of a genome and does not always show disease symptoms if happens in the coding region due to amino acid codon degeneracy.

 

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