Pedigrees
A pedigree, which is also called a genealogy, can be formally defined as “a group of individuals together with a full specification of all the relationships among them” (Thompson, 1986). Pedigrees can be shown graphically. One example of a pedigree is shown in Figure 2.3. By convention we use a square to denote a male and a circle to denote a female. Horizontal lines below couples are used to represent marriages. Parents and their children are linked through vertical lines. The individuals who are in the same level in the pedigree are in the same generation, often denoted by Roman numerals. Each person in each generation is labelled by Arabic numbers. Individuals with data e.g. those who are affected by a disease, are shown by shading. By
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Pedigrees are often used to determine the mode of inheritance (e.g. dominant, recessive, etc.) of genetic diseases. They are also essential to linkage analysis.
Linkage analysis is the analysis of the linkage in the inheritance between genes at different loci based on the observational phenotypes and the known pedigree structure (Palmer, 2011). Linkage between loci is the tendency for alleles of two or more loci close on the chromosome to be transmitted to the next generation together. So generally the closer two genes lie on a chromosome, the more likely they will show linkage. Genes located on different chromosomes, for example, do not show linkage. Genetic linkage studies aim to estimate the distance between a set of markers (polymorphic DNA sequences with known location) and a putative trait gene by estimating the recombination fractions. If a disease tends to be passed to offspring along with specific markers, then it can be concluded that the gene(s) which are responsible for the disease are located close on the chromosome to these markers. The disease could be a Mendelian disease (caused by one gene) or a complex disease, which is caused by the action of many
Nowadays, DNA is a crucial component of a crime scene investigation, used to both to identify perpetrators from crime scenes and to determine a suspect’s guilt or innocence (Butler, 2005). The method of constructing a distinctive “fingerprint” from an individual’s DNA was first described by Alec Jeffreys in 1985. He discovered regions of repetitions of nucleotides inherent in DNA strands that differed from person to person (now known as variable number of tandem repeats, or VNTRs), and developed a technique to adjust the length variation into a definitive identity marker (Butler, 2005). Since then, DNA fingerprinting has been refined to be an indispensible source of evidence, expanded into multiple methods befitting different types of DNA samples. One of the more controversial practices of DNA forensics is familial DNA searching, which takes partial, rather than exact, matches between crime scene DNA and DNA stored in a public database as possible leads for further examination and information about the suspect. Using familial DNA searching for investigative purposes is a reliable and advantageous method to convict criminals.
Advantages of genetic testing may be helpful in determining whether or not you have a disease or are proba...
Family history possesses valuable information about a person’s past and future life. It can be used as a powerful screening tool to help conduct decisions about genetic testing for you and family members at risk. Family history can identify potential health problems that an individual has an increased risk for in their lifetime. With early identification, you can begin taking steps to reduce the risk with things such as lifestyle changes of diet and exercise. In many cases, just by adopting a healthier lifestyle can reduce your risk for diseases that run in your family.
I introduced the genogram to my client during our second session together. I described it as an extended version of a family tree and being structured in a similar way, it reveals intergenerational communication and relational patterns. It is a method of gaining insight into why we act a certain way or why we hold certain beliefs. As we build on this family jigsaw we can piece together a broad framework of family relationships and patterns, not only in our family of origin (FOI) but also from a multigenerational perspective. Paolo Freire asserts “No one goes anywhere alone, even those who arrive physically alone .... we carry with us the memory of many fabrics, a self, soaked in our history and our culture” (Freire, 1994, P. 31 as cited in McGoldrick, Gerson, & Petry, 1985).
The genogram (figure 1) below is a pictorial representation of the family generations, which can be used to identify repetitive patterns of behavior and can be used as a visualization of their internal family dynamics (Definition of Genogram, 2016). This is showing the immediate family that is more interactive with the children and their parents.
Genograms are key to helping you determine the patterns and differences that are consistent in your family structure. Genograms can also help you to determine why certain subsystems engage in certain behaviours.
Kinship communities face scarcity of economic resources and fragility of environmental sustainability. Unlike in modern nation-state structures, in kinship communities, status is determined by relationships to ancestors according to blood ties. Families, clans, and tribes operate according to blood lineages that determine economic and social identities of members of the kinship society. Identity, belonging, and ascribed status in the group, is determined by a relationship to a specified ancestor. Therefore, economic, social, and political identities are a function of descent. Descent communities ensure order by employing a wide range of symbolic interactions that attempt to bring ancestors back to life such as totem poles or shrines and temples
A genetic family history assessment contains information about family structure and relationships. A typical nurse will use a three-generation family pedigree to gather the information. By doing so, nurses can be aware of which family members are at risk for disorders from a genetic component. Therefore, they can be provided with lifestyle advice, recommendations, and referrals to appropriate specialists (Kaakinen, Coehlo, Steele, Tabacco & Hanson, 2015). A genetic family history assessment will be provided about my family.
After completing my family genogram, I was able to notice the history of a couple of patterns of fusion in particular. One of the relational patterns that stood out was emotional abuse which for the sake of this assignment I have only traced it back three generations, starting with my paternal grandfather Marciano, who endured the aftermath of the WWII and who conceived out of wedlock (COW) from Spanish and Mestizo parents and who married a woman Fidelina, of Chinese and Indian origin, born in El Salvador like him. Based on anecdotal accounts, Marciano was particularly emotionally abusive towards Rosa, my mother, who is also the first born of the couple and COW. Marciano had very high standards of beauty and intellect, which often triggered name calling, insults, and other forms of humiliation aimed towards my mother, causing her to feel belittled and resent his treatment towards her.
When forming my family genogram consisting of four generations of an African American family, there were a few trends that were expressed and demonstrated in my genogram. There was the consistent health trend of cancer being significant in my family. There are several known cancers that has the “highest death rate and shortest survival” for African Americans that took the lives of those in my family (DeSantis et al., 2016, pg 290). As viewed in my genogram diagram, most of the older generation in my family lived a longer life span passed 70 years of age. As Richardus & Kinst (2001) stated, “Higher mortality rates have been observed in the Black population,” and that can be based on a several known causes of deaths (p. 1251). Many of my family
Figure 1 shows the family genogram. S.S. has one sister, with both grandparents deceased on his paternal side, and one grandparent deceased on his maternal side. S.S.’s parents are both living. He has two paternal aunts, five maternal aunts, and one maternal uncle. The squares gray represent by Males and the gray circles represent Females. The blue square represents S. S. and the white circle represents his spouse, K. S.. The red lines represent people that are deceased. Yellow boxes represent family members that were adopted.
According to Tom’s genogram, there are no serious indicators of familial physical or mental illness. The only possible indicator would be his paternal great grandmother who committed suicide, but there was not enough information to know the cause behind her suicide since it was a family secret until recently. Tom’s maternal grandfather and siblings were shown to all be formerly or currently smoking. Tom does not currently smoke but about a year ago he mentioned he would smoke socially. With both paternal grandfathers currently diagnosed with cancer, Tom shared some concern of that he may have a predisposition for cancer. Tom mentioned that he has never met his paternal family members due to distance. Tom is currently living
Molecular Diagnostics is defined as tests which identify certain patterns in both RNA and DNA. These tests are able to identify RNA, genes, and protein sequences which play a role in diseases. These sequences may be linked to diseases which include nucleotide polymorphism, deletions, rearrangements, and many more. Molecular Diagnostics is also able to identify and multiply the presence of certain microorganisms and cells. Molecular Diagnostics provides a great amount of clinical information. For example, hereditary disorders to specific drug therapies or hereditary relationships in general. Molecular Diagnostics is also well known for providing qualitative and quantitative results that help in detection,
The first category I will start with is consanguinity. These are the people who are biologically related to each other. When a family is biologically related, people say there is a deeper connection to one another. They are related by blood. Children who are blood related to their parents are said to have more protective and strict parents. Parents are a huge part of family because they protect and raise their kids. While parents are very important so are sisters and brothers. While the parents are away the older sister can take care of the younger and vi...
...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.