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Inborn errors of metabolism (IEMs) are a group of rare genetic disorders that affect the body’s metabolic processes leading to a wide range of symptoms and clinical manifestations. Inborn metabolic disorders are caused by genetic mutations that affect enzymes, transporters,…
A pedigree is a chart or diagram that shows the relationships between members of a family of several generations and can be used to study the inheritance of genetic traits or diseases. A pedigree typically includes information about family members,…
A Punnett square is a graphical representation used in genetics to predict the possible genotypes of offspring resulting from a cross between two parent organisms. It is named after Reginald Punnett, who developed the technique in the early 20th century.…
A reciprocal cross is an experimental technique used in genetics to determine whether the inheritance of a particular trait is affected by the sex of the parent carrying the gene. In a reciprocal cross, two-parent organisms are crossed in two…
Genes that show independent assortment are said to be unlinked. Unlinked genes are genes located on different chromosomes or located far apart on the same chromosome that are unlikely to be inherited together during reproduction. In other words, they are…
Pleiotropy refers to the phenomenon where a single gene has multiple effects on an organism’s phenotype or observable traits. It can affect the phenotypic behavior or characteristics in one or different ways. A pleiotropic effect, thus, refers to the specific…
The principle of complementation is a fundamental concept in genetics that refers to the ability of two different mutations in the same pathway or biological process to restore a wild-type phenotype when they are present together in the same organism.…
CRISPR-Cas9 is a powerful gene editing tool that allows scientists to make precise and targeted changes to the DNA of an organism. Biochemically, Cas9 is a naturally occurring 160 Kilodalton protein in bacteria that is used to defend against invading viruses and…
Chaperones are specialized proteins that help to maintain proper protein folding and to prevent their aggregation during the synthesis and transport of protein molecules. Chaperones are proteins that interact with partially folded or misfolded proteins to guide them to the…
What is Alkaptonuria? Alkaptonuria is a rare genetic disorder that affects the metabolism of amino acids – phenylalanine and tyrosine. Due to this, it leads to the buildup of a pigment called homogentisic acid in the body. Accumulation of homogentisic…