Chromosome

usually call it by its abbreviation ‘RP’. Even though RP is a rare disease, it is very harmful. It can lead a person to blindness. By studying Retinitis Pigmentosa for 20 years, Eric A. Pierce, a ophthalmologist, found out that what part of the chromosome goes wrong will cause the RP happened. In the experiment, he first looks for the mice that have the RP, and take out their genes to compare to the candidate genes from human. Then, they matched them and used the conventional molecular genetic…

Gene expression within a eukaryotic cell is directly impacted by the spatial organization of the nucleus [1]. Cellular organization is carried out at the chromosome-level [1], through means of chromosome folding, gene kissing, looping, nuclear lamina associations and protein-nucleic acid interactions within nuclear bodies. Observation of the nucleolus using Raman microspectroscopy may provide more insight into macromolecule density and distribution, as well as provide answers to the still…

trisomy in pregnancies, the extensive studies on Down syndrome are due to the fact that it the most common trisomy compatible with life. Down syndrome is caused by chromosomal nondisjunction (95%), mosaicism (3%), or translocation (2%). The human chromosome 21 (Hsa21) harbors five microRNA (miRNA) genes.” (The Spectrum of Pulmonary Malformation in Trisomy-21 Patient. A Review with Emphasis on the Molecular-Genetic Basis.) “Affected patients share distinct phenotypes life cognitive disabilities,…

Chromosomes, or strings of genes carrying genetic information, are vital to the existence of living things. A specimen cannot have more or less than how many that particular species needs. In humans, this number is 23. The 23rd pair of chromosomes, referred to as Group X, contain the sex cells that decide the gender of the organism. If a Y chromosome is present, the organism is male, and if not, it is a female. If the chromosomes fail to separate correctly during meiosis (type of cell division…

Down syndrome is a mutation that occurs when an individual has a partial or full extra copy of chromosome 21. The additional chromosome changes the course of development and causes the well known characteristic changes associated with down syndrome. A few of the common physical traits of down syndrome are small stature, low muscle tone, and an upward slant to the eyes. However, each person affected with down syndrome is unique and may possess these characteristics to different levels. Down…

female parent to their male offspring. A crossover is the basis of genetic information exchange, which occurs when homologous chromosomes pair up on the basis of sequence similarity in meiosis I and chiasmata is formed between two chromatids (Hochwagen 2008). Closely…

This mainly happens due to a problem with cell division, and because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. The most known disorder under this type of inheritance disease is Down Syndrome. Down Syndrome occurs when a person has three copies of chromosome 21. Mitochondrial inheritance is a type of genetic disorder caused by mutations in the non-nuclear DNA of mitochondria…

Niemann-Pick type C (NP-C1) Chromosome 18, one of the 46 chromosomes in each cell, divided into 23 pairs, has about 78 million DNA base pairs and represents approximately 2.5 percent of the total DNA in cells. It is also estimated to contain 200 to 300 genes. (Chromosome 18) A mutation in the chromosome can lead to a mutation of the genes located there. An example of this is 18q deletion syndrome caused by a deletion of genetic material from the long (q) arm of chromosome 18. The symptoms of…

potential chromosomal disorder in a newborn. Edwards called it trisomy which means type unknown. Then he had some of the tissue tested and founded an extra chromosome. He then re-named named it trisomy eighteen, or Edwards syndrome. Edwards syndrome is where there are two pairs of eighteen chromosomes and it has an extra chromosome. Normally chromosome 18 only has two pairs. There are two types of Edwards syndrome, full form and mosaic trisomy eighteen. In full form about ninety five…

the chromosome 21 to separate during sperm or egg development. As a result of this, a sperm or egg is produced with an extra chromosome 21. When it is combined with the other normal cell, the baby has 47 chromosomes out of which 3 are chromosomes 21. In 88% of the cases, trisomy 21 arises from the non-separation of the chromosomes in the mother, 8% from the non-separation of the father and only 3% when the egg and the sperm have merged together to form one. Translocation The extra chromosome…