Part A: Data Collection, Presentation And Analysis
Survey Results
Many human features are controlled by a single pair of alleles, one dominant and one recessive, that are inherited in simple Mendelian fashion. To examine this further, a survey was done on two of basic human features.
The two phenotypes chosen for the survey were hand clasping (left over right being dominant) and tongue rolling (where the ability to do so is dominant). Fifty people from a variety of demographics were surveyed. The table below shows the results of the survey.
Table 1: Survey Results
Tongue Rolling Hand Clasping Tongue Rolling Hand Clasping
1 Y R 26 Y L
2 N R 27 N L
3 Y R 28 N R
4 Y L 29 Y R
5 Y L 30 N R
6 N L 31 Y L
7 Y L 32 N L
8 Y R 33 N L
9 N L 34 Y R
10 Y R 35 Y R
11 N R 36 Y L
12 N R 37 N R
13 Y R 38 Y L
14 Y L 39 Y R
15 Y L 40 N L
16 Y L 41 N L
17 N R 42 N L
18 N L 43 Y L
19 N L 44 Y L
20 Y R 45 Y R
21 N R 46 Y R
22 Y R 47 N L
23 N L 48 N L
24 Y L 49 Y L
25 Y R 50 Y L
The following table shows the two alternative phenotypes for each characteristic, each phenotype’s possible genotypes, and the frequency and relative frequency of each phenotype in the sample above. The relative frequency is the frequency divided by the total number of people (in this case fifty) then multiplied by 100 to be expressed as a percentage.
Table 2: Survey Frequency Table
Tongue Rolling Hand Clasping
Alternative Phenotypes Able to roll tongue Unable to roll tongue Left thumb over right Right thumb over left
Possible Genotypes RR, Rr rr CC, Cc cc
Frequency 29 21 28 22
Relative Frequency 58% 42% 56% 44%
The graph below is a visual representation of the relative frequency table above.
Fi...
... middle of paper ...
... Muscular Dystrophies. Retrieved March 2010, from Muscular Dystrophy Foundation Australia: http://mdaustralia.org.au/files/2009/02/duchenne-and-becker-mds.pdf
This article is actually an adaptation of a factsheet from the MDA USA (Muscular Dystrophy Association) by MDNSW. While the article does not state any references, both of these agencies are respected and have medical and scientific advisory committees. The information appears to be correct and is congruent with the other articles. The information is simply factual, and is not biased. The original factsheet was published in 2006, and was adapted in 2007, and the material is still correct and current. The article contains general but detailed information about DMD, including causes, symptoms, diagnosing, recent research, and how the disease is inherited. All the information is useful and easy to understand.
Rantala, M. J., and Roff, D. A. 2006. Analysis of the importance of genotypic variation,
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
"Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 20 May 2014.
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Muscular dystrophy refers to, not one, but a group of muscle diseases. These diseases have three features in common: they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood form of this group of diseases.
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Muscular dystrophy is a complex disease that has been around for many years. Although it was discovered in the 1830s there is constant discoveries about the disorder. (“New knowledge about Muscular dystrophy,” 2014 May 5) There are several research studies being done around the world to help find a cure. Here’s to hoping that a cure will be found and no more lives will be taken by this debilitating disease (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 15 Changing Allele Frequencies, pp 293. [VitalSource Bookshelf Online]. Retrieved from
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
In our genes, multiple different alleles determine whether one person will have a certain trait or not. Alleles are what make-up our genotypes and in this lab, we wanted to determine the genotypes of our class in the two loci: TAS2R38 and PV92. The TAS2R38 locus codes for a protein that involves the bitter taste of PTC; the gene determines whether or not a person will taste the PTC paper as very bitter or no taste at all. People with the “T” allele are tasters while those that are homozygous recessive (tt) are non-tasters. The taster locus can be found chromosome 7.3 The two different alleles present in the could be due to the effect of evolution and natural selection because the same can be found in chimps.4 The PV92 locus does not code for any protein but rather involves an Alu element that is 300-bp long. A person with the “+” allele would have the Alu element making that sequence longer while those with the “-“ allele don’t have the element and would have a shorter sequence. This locus can be found on chromosome 16.3 There are multiple Alu sequences found among primate genomes but there are human specific sequences such as the one found on the PV92 locus.1 In the experiment, student DNA was collected from cheek cells and PCR was used to target the loci and amplify the region of DNA. In the taster gene, after amplification, a restriction digest was performed to differentiate between the two alleles. The digest was able to show differentiation because those with the “T” allele would have two bands from gel electrophoresis and those with “t” will have one band because the restriction enzyme doesn’t cut it. For the PV92, we were able to distinguish between the alleles due to the added length of the Alu element. Those...
This paper addresses a currently relevant topic of detection of associations of copy number polymorphism with traits and will be of interest to readers of Genetics Research.
Data Collection and Analysis Questionnaire The research was carried out on both quantitative and qualitative approaches. It began with a quantitative approach—questionnaire. Bryman and Bell (2003) asserted that mail or postal questionnaires are the most popular forms of questionnaires. Another form—self-completion questionnaire—was also common because of the overlap with postal questionnaire to some extent.
more than half the variation was found to be due to heredity. Among these traits were
...ary part in genotypes of potential interest that human geneticists breeders, as well as evolutionary geneticists are investigating. However, although we have the capability to unravel experiments that the founders of quantitative genetics would have never imagined, but their basic, un-computational machinery that they developed is most easily adaptable to the latest analyses that will be needed. We are far from ‘letting-go’ molecular biologists from the mathematical techniques/systems, because this age in respect to genomics has been forced into accepting gratitude due to the major importance of quantitative methods as opposed to the new molecular genetics. As geneticists tend to map molecular variation as well as genomic data, quantitative genetics will be moving to the front position because of its relevance in this age of rapid advancement in molecular genetics.