Hutchinson Gilford Progeria Syndrome ( Hgps ) Essay

The following results helped obtain the haplogroup that in which the sequence of mtDNA would identify. The PCR reaction worked, and this can be determined by looking at the agarose gel in figure 1. If the PCR reaction was successful, than a band should appear around 550bp. Individual AC displays a band around 550bp, this means the PCR reaction was successful. The band for individual AC, depicts a low concentration of product, because the band faint. After the purification process the concentration, A260/280 ratio, and A260/A230 ratio were determined by using the nanodrop. The concentration of mtDNA in the product was 60.9 ng/uL. The ratio for A260/280 was 1.79 and the ratio for A260/230 was 0.77. The A260 and 280 are a spectrometer measurement that measure absorbance at wavelengths of

My gene is located at chromosome 9 on the long (q) arm at position 34, 9q34.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

To begin the process to determine the XhoI recognition site in the lamda DNA fragment we first prepared 4 tubes of solutions containing 10X Optizyme reaction buffer, sterile water, lambda DNA (0.3 ug/ul), XhoI (10u/ul, 3000u), and HindIII (10u/ul, 7500ul). Tube 1 contained 2ul 10X Optizyme, 16ul sterile water, and 2ul lambda DNA. Tube 2 contained 2ul 10X Optizyme, 14ul sterile water, 2ul lambda DNA, and 2ul XhoI. Tube 3 contained 2ul 10X Optizyme, 14ul sterile water, 2ul

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.

McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. Prognosis is good if it is diagnosed and treated promptly. Most mortality is associated with PFD. Diagnosis may include hormone level monitoring, imaging and GNAS1 genetic testing. Treatment is dictated by the tissues

The LMNA gene produces two major proteins called lamin A and lamin C and is localized at 1q22. The two proteins are structural proteins found in the nuclear envelope in majority body cells and surrounds and provides support to nucleus. The mutation is autosomal recessive and rarely inherited due to affected individuals rarely living long enough to reproduce. The point mutation causes the replacement of the nucleotide cytosine with the nucleotide thymine, which mutates the recognition site the the enzyme uses to cleave the prelamin A to lamin A. A splice site is activated within the lamin A gene and generates progerin, an alternate form of lamin A with the deletion of 50 amino acids at the C-terminal. Lamin A is unable to form which leads to a build up of prelamin A on the nuclear membrane. The build up of prelamin A causes nuclear blebbing, an abnormal shape of the cell and a characteristic of

INTRODUCTION: Stickler syndrome was first reported in the medical genetics in 1965 by Gumnar Stickler et.Al who called the disease

Hutchinson Gilford Syndrome or otherwise commonly known as Progeria; is a fatal disease. Sadly, death occurs in every case. This disease is a fast spreading disease in the body, it affects the body almost instantaneously.This disease is a rapid aging disorder caused by a LMNA anomaly. This anomaly release progerin, a mutant lamin. The lamin A/C is the official name of the gene more widely known as LMNA. The gene gives out a designated list of tasks to making different proteins called lamins. The infected cells show a decrease in heterochromatin, a increased amount a deoxyribonucleic acid, and cell cycle changes. Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease that affects the skin, musculoskeletal system, and vasculature. HGPS is characterized by signs of premature aging(Kara N Shah,HGPS, MedScape)

Hutchinson-Gilford progeria syndrome is a genetic disorder that causes the appearance of young children to intensely and rapidly age and have illnesses that are typically associated with the elderly. Progeria is caused by a mutated gene called the LMNA and this gene produces a protein called lamin-a. Lamin-a is an important protein because it is what’s responsible for creating the shapes of the nucleus in cells. It’s also responsible for supporting the nuclear envelope, which is the membrane that surrounds the nucleus. Progeria is caused because of the creation of an abnormal version of the lamin-a protein.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

We then amplified a ~830 bp fragment of the mtDNA encompassing the D-loop of the control region and the adjacent tRNAThr and tRNAPro with primers LCM15382 and H950 developed by Abreu-Grobois and colleagues, as cited in Proietti et al. (2014). We conducted 25µl PCR reactions which included 50 ng of genomic DNA, 12.5 µl of NEB One Taq Hot Start Master Mix (M0488L, New England Biolabs, Inc.), 9.5 µl of sdH20 and 1 µl of each primer, with the