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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.
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.