Chromosome

Research into the genetics of deafness has shown that mutations in the CX26 gene, located on human chromosome 13q11, cause non-syndromic recessive deafness (9, 10). Expression of GJB2 has been documented in a variety of cells and tissues. In the cochlea, CX26-containing gap junctions are proposed to maintain K homeostasis by ferrying K away from the hair…

(Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015). This disorder is an autosomal dominant disorder (McKusick, 2015) and has been found to be a result of mutations in the NSD1 gene (Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015), on the chromosome 5q35 (Faravelli, 2005; McKusick, 2015). There are over 100 mutations that have been found in the NSD1 gene, with all of them occurring de novo and at no specific spot in the gene (Faravelli, 2005). NSD1 contains 8088 base pairs, 23 exons,…

Introduction When analyzing biological processes and development, Drosophila melanogaster is an ideal organism to utilize. Compared to other organisms, the functions of D. melanogaster are easier to manipulate due to its quick sedation time from carbon dioxide. These flies can be sedated in less than ten seconds with a carbon dioxide flow rate of 5L/min. D. melanogaster also produces offspring in a short amount of time (roughly 10 days at 25 degrees Celsius), which makes it a desirable species…

is arranged. One of their main function is to contribute/help with processes that involve cellular activities. One example of cell division where centriole plays a role in mitosis where the organelles creates spindle fibres. These fibers allow chromosomes to be separated from each during mitosis and the can create daughter cells. The centrioles play a key role…

syndrome, gonadal digenesis, and 45,X, is a chromosomal condition that happens to girls and women. It caused because there is either a complete or partial absence of the second sex chromosome. It is known to occur when all or part of the X chromosome is lost before or soon after the time of conception. Humans have 46 chromosomes containing all of a person’s genes and DNA and they usually have 45. It is a very rare disease as it only occurs approximately 1 of every 2,000 live female births and…

Adrenoleukodystrophy (ALD) is a condition which affects the ability of adrenal glands to produce adrenaline and myelin, which insulates the nerves in the brain and spinal cord. This diminishes the ability of the brain to communicate effectively with the rest of the nerves. This condition was initially identified in the early 1900s and was originally called Schilder-Addison disease (2). The cause of this condition originates in the peroxisomes, which are tiny structures in the cell which assist…

1940 by alexander wiener and Karl Landsteiner . Rh blood group is the most complex genetic of all blood type system, because it hooks 45 different surface antigen on the surface of the red cells that are controlled by two closely linked genes on chromosome 1. The antiserum for blood sample was the outcome results of the research that was done on the rhesus monkeys which lead to the naming of the Rh system. (Oneil, 31-07-2015) The RH factor works in a certain way, when the antiserum agglutinate …

happens when the structure of the gene changes. Making a version that may be transferred to future generations when there’s an alteration of a single base unit in the DNA or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Alexandria’s Genesis is a recessive gene that affects the color of the eyes, as well as multiple body parts. It causes the eyes to turn from blue or grey to purple, six months after birth. And the shade of the eye color to darken during…

It is the process of producing female gametes.The sex determination of the embryo has occurred. The occurrence of the SRY gene on the Y chromosome on the male gonad formation and spermatogenesis, while female gonad development is the ‘default state’. The process of oogenesis produce egg cellsis also called ova.The spermatogenesis, oogenesis involves the formation of haploid sex cells in…

present. In some cases, however, there is bone structure within the digits making them partially or fully functional. According to Paul Arnold, polydactyly is caused by the mutation of a gene on chromosome 7. There are multiple mutations that can occur to a gene that is on the short arm of this chromosome resulting in extra digits on various parts of the feet or hands. This gene is the GLI3. This gene takes part in creating the patterns of organs and tissues while…