Mutation may be defined as any change occurred in the DNA sequence‚ which changes the gene function regardless of the morphological or physiological results. It is permanent‚ hereditary and ruled by Mendel’s laws. Such chemical changes are constant and occur during the replication stage and they can be quickly fixed; however‚ a mutation may occur if not repaired. They can affect autosomal genes (dominant or recessive) or be linked to sex chromosomes. Mutation can result in several different types
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Andres Schmidt Biology Period- I 05/21/13 Coffin-Lowry Syndrome (CLS) Coffin-Lowy Syndrome Definition: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth‚ cardiac abnormalities‚ kyphoscoliosis‚ as well as auditory and visual abnormalities. Grange S. Coffin in 1966 discovered this syndrome‚ in the University of Columbia New York United States of America. Grange S. Coffin Grange
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Down Syndrome Down syndrome occurs when there is an extra copy of chromosome 21. People with this abnormality is described to be having a physical feature like excess skin at the nape of the neck‚ flattened nose‚ single crease in the palm of the hand‚ small ears‚ small mouth‚ upward slanting eyes‚ wide‚ short hands with short fingers‚ white spots on the colored part of the eye. The condition is often associated with some level of mental retardation or learning disabilities. These individuals are
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DOWN SYNDROME TRISOMY 21 BY: CYNTHIA AGUILAR 11/05/2012 Down syndrome affects many people in this world. Not only does it affect the person diagnosed as Downs‚ but it also affects their family and everyone around them. There are physical characteristics that help you identify somebody with Downs. There are also some health concerns that you need to worry about. Down’s Syndrome‚ it is one of the most frequently occurring chromosomal
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In 1939‚ Dr. Turner published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature‚ webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today‚ Turner Syndrome occurs in 1 in 2
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Goals Chapter Review Questions and RAs Vocab: I. Mendelian Genetics Genetics Opener Become an Expert on a Genetic Disorder A. Mendel (91) ★ Describe Mendel’s experiment and conclusions Gregor Mendel Reading Assignment Lab: Observable Human Genetic Traits (on paper) Trait Selfpollination Crosspollination Pure P1 generation F1 generation F2 generation Dominant Recessive Law of segregation Law of independent assortment allele B. Genetic Crosses (92)
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Are Human Being naturally good or evil? Fundamentally speaking‚ are humans naturally good or evil? This is a question that has been repeatedly asked throughout humanity. For thousands of years Philosophers have debated whether we have a naturally good nature that is corrupted by society‚ or an evil nature that is kept in check by society. I believe that we are all born what society calls evil. Our instinct is to kill and survive but as society and civilization has evolved we have been taught
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Results RAPD and ISSR fingerprint In order to evaluate the efficiency of RAPD-PCR fingerprinting for Cajanus cajan L. cultivar‚ the DNA was used as templates for 7 RAPD primers banding modality. Total number of magnified fragments in the Cajanus cajan L. cultivar value of each primer was represented in Table 2. Total of 26 bands were obtained for all primers. The highest band number was produced with primer OP-A5 and OP-B4‚ while the lowest band number was created with primer OP-A13. The RAPD banding
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Chromosomes Mutations With the exception of the mother’s egg cells or the father’s sperm cells‚ every cell in the normal human body contains 23 pairs of chromosomes‚ totaling 46 in each cell called the diploid number. According to The Human Genome project there are over 30‚000 genes in every cell‚ spread unevenly across the chromosomes. Of the 23 pairs of chromosomes‚ one member is inherited from the mother‚ and one from the father. Members of each pair are called homologous. The first 22 pairs
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Klinefelter Syndrome is a syndrome in which a person has an additional X-chromosome. It is not life consuming‚ but rather people who have this syndrome can live perfectly normal lives proper treatment and care‚ if precautions are taken early on. Dr. Harry Klinefelter in 1942 first identified the syndrome. Now some may ask what Klinefelter syndrome is. Klinefelter syndrome is a syndrome in which a person inherits an extra X-chromosome making their genetic makeup xxy instead of the normal How it occurs
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