Examples of Genetic Mutations

Genetics

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Data 2fimages 2fhou5p3assyqq6euizo0o 190413 s0 afridi maham examples of genetic mutations intro
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Examples of Genetic Mutations
Data 2fimages 2fhagtacotscifnlsbxdza 190413 s1 afridi maham gene protein relationship
09:25
Gene Protein Relationship
Data 2fimages 2f36mxikbzqwgwsr2dpao2 190413 s2 afridi maham mutation in dna sequence
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Mutation in DNA Sequence
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Tandem Repeats
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11:09
Transposable Elements
Data 2fimages 2fioxyttpbspw97cagwxxk 190413 s5 afridi maham mutations in rna
11:44
Mutations in RNA

Lecture´s Description

This sqadia.com medical video lecture solely explains the examples of genetic mutations. Maham Afridi begins by explaining complex genetics of cystic fibrosis, variations in one gene one protein hypothesis, and mutation in DNA sequence such as beta thalassemia. After that tandem repeats, dyskeratosis congenita, in conjunction with transposable elements are described. Mutations in RNA are also elaborated.

Gene Protein Relationship

At first, timeline of gene protein relationship is presented. After that genotype-phenotype correlation is highlighted with the help of diagram. Then educator explains the complex genetics by taking cystic fibrosis as an example. Cystic fibrosis is a physiological cascade of abnormal Cl- transport. Maham Afridi also notifies about variations in one gene one protein hypothesis.

Mutation in DNA Sequence

Mutations in DNA sequence results in missing protein product while changes in coding sequence produces a structurally abnormal product. Degenerative nature of DNA code is elaborated by wobble in protein translation and silent changes. Then beta thalassemia is discussed which is a disorder of Hb molecule. Role of pseudogenes in medicine is also described.

Tandem Repeats

Tandem repeats are clustered repeated nucleotides i.e. next to each other and oriented in the same direction. Tandem repeats are further classified into satellites, minisatellites and microsatellites. All of these are discussed in succession by Maham Afridi. Following this, a multisystem disorder dyskeratosis congenita (DC) is illuminated which is of 2 forms i.e. one form is X-linked and the other is autosomal dominant.

Transposable Elements

This section is the elaboration of trinucleotide repeat disorders which is a group of neurogenetic disorders that share a common pathophysiology. Features of lynch syndrome also known as hereditary non-polyposis colorectal cancer (HNPCC) are also considered. Moving onward, educator talks about conditions associated with higher mutation rate.

Mutations in RNA

Clinical conditions associated with mutations in tRNA include Charcot-Marie-tooth disease, peripheral neuropathies, Alzheimer disease. Changes in rRNA leads to defects in ribosome biogenesis and problems with RBCs production. Abnormalities in miRNA are implicated in cancer, cardiac problems and neurologic changes. Significant cognitive deficits along with various other conditions is reported extensively.

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