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The Punnett square works, however, only if the genes are independent of each other, which means that having a particular allele of gene "A" does not alter the probability of possessing an allele of gene "B". This is equivalent to stating that the genes are not linked, so that the two genes do not tend to sort together during meiosis.
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Carrier frequency of the intellectual disability is three times more than that of sickle cell disease and thalassemia among the Arab population with 25–60% consanguinity rates!. 33 genes (observed phenotype), were identified among the pre-screened multiplex consanguineous families with neurogenetic disorders.
The purpose of the Stem Cell Lineage Database is to consolidate the three key components into a database that is accessible and capable of storing information "about cell type gene expression, cell lineage maps and stem cell differentiation protocols for both human and mouse stem cells and endogenous developmental lineages".
Exagamglogene autotemcel, sold under the brand name Casgevy, is a gene therapy used for the treatment of sickle cell disease [1] [3] and transfusion-dependent beta thalassemia. [1] It was developed by Vertex Pharmaceuticals and CRISPR Therapeutics .
HBB protein is produced by the gene HBB which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.4. Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR), the most important regulatory element in the locus located upstream of the globin genes. [9]
A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia. Often, the advantages and disadvantages conveyed are rather complicated, because more than one gene may influence a given trait or morph.
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [5] and HBA2. [6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. [7]