The Fragile X Syndrome
The fragile X syndrome has received a lot of attention from researchers. Being a genetic illness, fragile X syndrome can be traced to its source by using cutting-edge research methods like polymerase chain reaction. This is important for managing the illness and providing genetic counseling to parents who might pass the disorder on to their offspring.<\p>
The Cause of Fragile X Syndrome
The gene for fragile X mental retardation 1 (FMR 1) mutation is the cause of the syndrome. The fragile X mental retardation protein (FMRP) is produced under the control of the gene. This protein is found in a number of tissues like brain, ovaries, and testes, and it is significant in the development of synapses (Sutherland & Mulley, 1996). Normally, CGG segment on FMR 1 gene repeats is 10 to 40. In fragile X syndrome, the repeat is over 200 times. It is this abnormal expansion of CGG that impacts on the synthesis of FMRP since FMR 1 gene is silenced. The protein deficiency interrupts the nervous system function resulting into the manifestation of the disorder signs and symptoms like intellectual disabilities and learning problems. The syndrome can be inherited if the mutated gene causing the disorder is located on X-chromosome (X-linked chromosome), with males suffering severely than females since the only X-chromosome they receive is from their mothers. Fathers only pass the disorder to their daughters while the affected mother passes the disorder to both the son and the daughter. This X-linked inheritance is important in providing genetic counseling to concerned mothers about the fate of their daughters. \n<\p>
Deoxyribonucleic Acid (DNA)
This is a double helix nucleic acid strand consisting of a phosphate backbone (5-carbon deoxyribose sugar and a phosphate) and a nitrogenous base (cytosine, thymine, adenine, and guanine) located within the nucleus of a cell. Also found within the mitochondria (mtDNA). Unique in each person, DNA testing has varied uses. In forensic science, it is used to identify individuals in crimes and disasters by use of biological evidence that links suspects. Clinically, it is used in diagnosing human diseases and inherited disorders like fragile X syndrome by use of marker genes.<\p>
DNA Replication.
This is a naturally controlled enzymatic process producing two identical DNA molecules from the original copy of DNA (Lehmann, 2012). It involves unzipping the double helix strand, binding of the primers to the complementary strands, elongation (copying of the strand) and finally termination of the process. Rarely occurring, mutation during replication can be corrected by the enzymatic proofreading action of exonuclease enzyme that recognizes and excises the mismatched base pairs.<\p>
Gamete production Process diagram
The diagram offers an insight of the process of protein formation in the process through transcription and translation.<\p>
Chromosomes and Genes
Chromosomes are the building factors of the human body. In this situation, the chromosomes house the genes and in the strands. When the gene is alternated, a mutations is said to occur leading to the deformation of the usual appearance of the DNA structure. Genes carry the hereditary factors that determine the features and appearance of an organism. As a result, altering them leads to transfer of deformed chromosome of offspring.<\p>
Polymerase Chain Reaction
A biological research tool used in the amplification of DNA molecules involving repeated thermal cycle regulation (Meyerhans, Vartanian & Wain-Hosbon, 1992). From a minute DNA number, a million copies are generated, making it a revolutionary technique in molecular research. The process requires Taq polymerase enzyme (thermal stable DNA polymerase), primers (initiators of the reaction), DNA nucleotides bases (dNTPs) and DNA template to be copied. 98 degrees Celsius temperature denatures double-stranded DNA separating it into two strands. Primers then anneal to the complementary DNA template section after cooling to about 60 degrees Celsius. Finally, at 72 degrees Celsius, Taq polymerase attaches to the primers and copies the DNA template producing new DNA strands. Twenty to forty repeats of the process double the previous DNA copies generating millions of copies. PCR technique is used in the study of fragile X syndrome to ascertain mutation of CGG segment on FMR 1 gene.<\p>
Conclusion
Cases of disorders affecting humanity are alarming. Advanced modern technology makes it easy to study genetically related illnesses to the molecular level by use of Polymerase Chain Reaction technique unveiling their root causes. Research on Fragile X syndrome furnishes the public with the information on the disorder and the possibility of being inherited to the subsequent generation, hence appropriate decision-making.<\p>
References
Lehmann, A. (2012). DNA repair, DNA replication, and human disorders: A personal journey. DNA Repair, 11(4), 328-334. Htt://dx.doi.org/10.1016/j.dnarep.2011.05.008
Meyerhans, A., Vartanian, J., & Wain-Hobson, S. (1992). Strand-Specific PCR amplification of low copy of DNA. Nucleic Acid Research, 20(3), 521-523. http://dx.doi.org/10.1093/nar/20.3.521
Sutherland, G., & Mulley, J. (1996). Fragile X syndrome and Fragile XE mental retardation. Prenatal Diagnosis, 16(13), 1199-1211. http://dx.doi.org/10.1002/(sici)1097-0223(199612)16:13<1199::aid-pd95>3.3.co;2-k
