National Academy of Agricultural Sciences (NAAS)
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PRINT ISSN : 2319-7692
Online ISSN : 2319-7706 Issues : 12 per year Publisher : Excellent Publishers Email : editorijcmas@gmail.com / submit@ijcmas.com Editor-in-chief: Dr.M.Prakash Index Copernicus ICV 2018: 95.39 NAAS RATING 2020: 5.38 |
Single nucleotide polymorphisms or SNPs are DNA sequence variations occurring due to an alteration of a single nucleotide of the genome sequence. These variations have a major impact on human response to diseases and therapeutic drugs. Although SNPs may or may not cause a disease, they can help us to determine the probability of occurrence of the disease. One such well-known lethal genetic disorder is Cystic Fibrosis. It is an autosomal recessive disease caused by an alteration in the CFTR gene (Cystic Fibrosis Trans membrane conductance Regulator gene), which codes for a chloride channel protein, found in the membranes lining the respiratory and digestive tracts. Bearing some common symptoms is the disorder chronic rhino sinusitis, which can also be traced to the alteration in the same CFTR gene. A comparative study of the two diseases indicates that the former requires two copies of the altered gene whereas a single copy may influence the occurrence of the latter. Our SNP analysis of this gene reveals that a point mutation occurs at locus 5618 of the nucleotide sequence leading to the conversion of the amino acid histidine to proline thus affecting the three-dimensional structure of the protein.
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