Comparative Genomics

Genetics

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Data 2fimages 2ftk7qkh7otgscfr9teepw 190413 s0 afridi maham comparative genomics intro
06:38
Comparative Genomics
Data 2fimages 2f3sil1rq2tmozjy77tpqg 190413 s1 afridi maham comparative genomics hybridization
15:06
Comparative Genomics Hybridization
Data 2fimages 2f2w5ssjhvq5sjgnqupihi 190413 s2 afridi maham pathogenesis of diverse conditions
17:20
Pathogenesis of Diverse Conditions
Data 2fimages 2fkv19xperbghhmhjzp7gx 190413 s3 afridi maham pathogenic mutations
16:21
Pathogenic Mutations
Data 2fimages 2fx9fps3jptzj94jqa8daj 190413 s4 afridi maham cystic fibrosis genetics
06:01
Cystic Fibrosis Genetics
Data 2fimages 2fmiwfj8k5sdvel4qr3jzq 190413 s5 afridi maham cystic fibrosis transmembrane conductance regulator
13:06
Cystic Fibrosis Transmembrane Conductance Regulator

Lecture´s Description

Maham Afridi expansively elaborates all aspects of comparative genomics in this sqadia.com medical video lecture. At first, concept of comparative genomics hybridization is delivered along with Saethre-Chotzen syndrome and splotch mutations in mice. Pathogenesis of diverse conditions such as Wolf-Hirschhorn (WHS), achondroplasia, and huntington disease is discussed afterwards. Moreover, pathogenic mutations are highlighted. Cystic fibrosis genetics and cystic fibrosis transmembrane conductance regulator is also reported in this lecture.

Comparative Genomics Hybridization

Initially Maham Afridi highlights the fact that if the gene is homologous by sequence, then it is not necessary that gene will perform same function. Saethre-Chotzen syndrome is caused by a mutation in a gene known as TWIST which is a transcriptional regulator while in drosophila segmentation defects of myogenesis are produced. Several other syndromes are elaborated in this section including splotch mutations in mice.

Pathogenesis of Diverse Conditions

This section is initiated by explaining the importance of etiologic diagnosis. Connection between genes and enzymes is pursued afterwards. Then pathogenesis of diverse conditions such as Wolf-Hirschhorn (WHS), achondroplasia, and huntington disease is discussed. Following this, Maham Afridi tells that relationship lies in pathogenesis.

Pathogenic Mutations

Types of pathogenic changes are highlighted in this section. After that, missing/nonfunctional protein is discussed. Then abnormal protein folding comes under consideration along with disruptive protein. Furthermore, gain of function in Albright hereditary osteodystrophy (AHO) and McCune-Albright syndrome is elaborated. Also, features of abnormal regulation of other genes are highlighted.

Cystic Fibrosis Genetics

Maham Afridi begins by answering the question i.e. How Complex Can Things Be? Molecular understanding of cystic fibrosis illustrates that it is an autosomal recessive inheritance. Its expression is beyond simple mendelian segregation. After that, molecular complexity of cystic fibrosis is reported. Predictive correlation between CFTR protein function and clinical symptoms is enlightened later on.

Cystic Fibrosis Transmembrane Conductance Regulator

Marked allelic heterogeneity in cystic fibrosis is elaborated initially. Next comes the elucidation of functional classes of cystic fibrosis mutations which are grouped in five classes of mutations based on the mechanism. Then, intragenic variants in the noncoding regions are discussed along with polymorphisms in other genes. Genotype-phenotype relationship in CF is also reported.

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