Genes are contained in an organelle referred to as mitochondria. This organelle is responsible for providing the body with the energy needed to run all the cellular activities. Mitochondria contain their own genome that is specific to a particular organism. This is essentially distinct from the nuclear genome that is obtained from both the father and mother and is harbored in the nucleus; as the mitochondrion genes are inherited exclusively from the mother. mtDNA occur in numerous numbers in the cell owing to their small size and they do not undergo recombination. They are the genetic markers that have been used over the years as genetic markers and by forensic scientists for identification purposes (Miroslava 52).
The objective of this paper is to look at the gene sequence and determine what mutation every individual bears from the samples provided relative to human reference sequence. The research work is also aimed at ascertaining the halogroup to which every particular member belongs to and how this translate to ones maternal ancestry roots/origin.
For hereditary mutation, they are obtained from the parents and so are present in the eggs and sperm cells that attributes to what scientist refer to as germline or germ cells and owing to its hereditary nature, it persists throughout a person’ life (Miroslava 70).
On the other hand, acquired mutation are encountered in the course of an individual’s life time and unlike hereditary the mutation cannot be passed on to subsequent generations. This type of mutation comes about through environmental factors interfering and altering the normal functioning of the cells. Such factors include exposure to UV rays of high magnitude or wavelength or occur during cell division when DNA replication is hampered. This case has no family history attached to it as the incident occurs spontaneously.
Through the study of our DNA sequences and patterns, we are able to identify genes that have mutated or carry mutant traits.
Question:
Turn in a one page(single spaced) description of how you tracked down information to determine your haplogroup and what it means to be a member of your haologroup. Make sure you cite the sources you used in your research.
My Find haplogroup steps:
- open website Prof. gave to us : http://www.stats.gla.ac.uk/~vincent/founder2000/motif.html
in the end of this form there shown you need add Add 16000 to HVS-I positions.
A hypervariable region is found in the nuclear of mitochondrial DNA where the pairing of bases takes place. During these processes, changes are bound to take place in the hypervariable region are very polymorphic. The two regions on the mitochondrion DNA are HVR1 and HVR2 DNA that play a very significant role in ascertaining one’s haplogroup. HVR1 is a low resolution segment while the HVR2 is attributed to as the high resolution. In identifying both the HVR1 and HVR2 during DNA analysis helps in the determination of the haplogroup on the sample. From documented data, HVR1 locations are from 16001 to 16568 while H8VR2 locations are from 001-574. With this kind of information, the experiments from DNA tests on samples work to provide an outline for group identification (Asari 201)
Prediction of Y-chromosome can be done using the mtDNA tests at Family Tree DNA that works on the basis of maternal inheritance along the family tree. The following diagrammatic representation depicts that the Y-line, paternal lineage is represented y the blue color while maternal mitochondrial lineage is marked as red as depicted below only that its only the women who pass on the genes.
(Asari 212)
In the determination of the specific haplogroup, one needs to add 16,000 to HVS-I positions. These are basically the transitions from the guiding sequence. A haplovariate region that has been identified for coding in the coursed of diagnosing mutation is achieved. Thee identified section can then be undertaken to a series bioassay analysis such as RFLP technique. The haplogroup U and haplofroup pre-HV mutations +12308 Hinf1 and 11718 Hae III concurrently. Some indication of the level haplogroup.
After aligning my sequence and recording the length of the sequencing positions. I was able to identify my mutations and their state (A, G, C) relative to Anderson reference sequencing technique. My DNA was essentially sequenced from nucleotide 15, 960 to 340. My resultant mutations are: 16,223 T, 16,325 C; 16, 519 C; 73 G; 150 T; 263G; 302.1 C inserein; 302.2C insertion; 310.1 C insertion.
Since I have both 223 and 362 mutations then it automatically translates that I am in group D. Family Tree DNA can be used to trace this lineage in as far as mitochondrial tests are concerned; and also serves to provide one’s clan designation.
Haplogroup D is directly inherited from the maternal lineage as mtDNA that alos be passed down to my lineage as a hereditary maternal haplogroup.
Works cited
Asari Marion. "Utility of haplogroup determination for forensic mtDNA analysis". Leg Med
(2007), doi:10.1016/j.legalmed.2007.01.007
Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski. "Phylogeographic Analysis
of Mitochondrial DNA in Northern Asian Populations". Am. J. Hum. Genet. 2007;81:1025–1041. DOI: 10.1086/522933
Ripan Malhi, Katherine Breece, Beth A. Schultz Shook & Frederika A. Kaestle, "Patterns
of mtDNA Diversity in Northwestern North America", Human Biology, Volume 76, Number 1, February 2004, pp. 33-54. DOI: 10.1353/hub.2004.0023
