The present study has constructed a pedigree tree of Mary Jones,who came to the family practice office for her insurance

Genetics- Pedigree Construction
A pedigree chart is a diagram that contains all the information about the past and present family members. It shows the appearance of probable phenotypes of genes from one generation to the next. It usually helps health professionals identify whether their patients are carrying any defective genes that are associated with the disease. Health professionals can ascertain the probability of recurrence of genetic diseases in the patient and his/her next generations.
This assignment presents the pedigree chart of Mary and her family members. It will also delineate the questions that patients are typically asked in order to construct the family pedigree. At the end of the pedigree construction, a detailed analysis of the chart will be undertaken in order to estimate the probability that Mary and her children might suffer from various diseases.

1. May I know your name? Please mention your age?
2. Are you currently employed by any company?
3. Please explain your family background?
4. How many children do you have? What are their ages?
5. Please mention the name of your children's father? Are you in a stable relationship?
6. Do you have any past broken marriage?
7. Please mention the age of your present husband? What does he do?
8. Do you have any genetic disorder? Have you gone through any surgical procedure?
9. Are your children healthy? Do they carry any genetic disorders?
10. Explain the health status of your husband, and if he is suffering from any chronic diseases, please mention the age at which he was diagnosed with the disease.
11. Mention the ages of your parents and grandparents.
12. Are they still alive? If yes, please mention their health condition. If no, please indicate the cause of death.
13. Do you have any siblings? If yes, please mention their ages and health details.
14. Do your parents have any siblings? Are they suffering from any chronic diseases?
15. Were any of your parents or grandparents alcoholics or smokers?
16. Do you have any siblings? If yes, please mention their age and whether they suffer from any chronic diseases.
17. Is there a history of cancer in your family? If yes, please mention the nature and location of the cancer.
18. Did any of your family members have diabetes? If yes, please mention the details.

Square and round boxes are used to identify males and females, respectively. Deceased family members are identified by a diagonal line across the box. Double-lined boxes denote adopted family members while a triangular box depicts a miscarriage. A diagonal line between two boxes (male and female) is used to indicate the status of divorce or staying not together. Live infected males and females of the second and third generations are colored by black ("PEDIGREE AND FAMILY HISTORY-TAKING", 2009).
A basic pedigree includes three generations with common traits and some general information such as age, marriage, number of children, etc. To make a general pedigree, health professionals ask family history questions related to health, number of siblings, age and so on. Based on Mendel's genetic traits, inherited diseases are of four types. These are autosomal dominant, autosomal recessive, sex-linked dominant and sex-linked recessive disorders (Richards, Bossdorf & Pigliucci, 2010).
According to the research articles, 5 to 10% of female cancers are hereditary. The pedigree chart indicates that Mary is prone to cancer. Mary's maternal grandmother died due to female cancer. Her paternal grandfather too died of lung cancer. However, her grandfather's cancer was a consequence of excessive smoking. However, female cancer is an autosomal disease. It can be recessive or dominant. Since Mary's mother was not affected by cancer, one can assume that female cancer in this case study is autosomal recessive and Mary has a 50% chance of cancer. Martha, Mary's mother, is a patient of type 1 diabetes and has taken insulin for more than 20 years. Two sisters of Martha also have type 1diabetes (Smith-Marsh & Zeller, 2016). Insulin-dependent, or type 1 diabetes, is a genetically inherited disorder. Several HLA gene complex mutations are associated with type 1 diabetes (Mayer-Davis et al., 2017). If both parents have this medical condition, then the children have a high risk of inheriting dominant type 1diabetes. Mary's father did not have any type I diabetes. Thus, Mary runs the risk of carrying one recessive gene of type I diabetes. However, her children are more susceptible to diabetes as autosomal recessive genes typically reappear in alternative generations. Mary's son has Down syndrome but her daughter is healthy has no shown symptoms of any disease until now. Down syndrome is an autosomal complex genetic disorder where an additional copy of 21 chromosomes is produced. This condition is neither dominant nor recessive for future generations (Horvath et al., 2015). Although Down syndrome is a genetic disorder, it is not transmitted from one generation to another. Arthritis is a genetically inherited disorder which affects the immune system. It is an autoimmune disease in which white blood cells produce antibodies against the host cells. Mary's father and uncle both have arthritis and thus, Mary has a chance of developing arthritis. Enlargement of the heart is known as cardiomyopathy.
This condition may be inherited from the past generations, and Mary's father had this disease ("Familial dilated cardiomyopathy", 2019). Mary's first child Cathy is 31 years old with two children. The twin children were born when Mary was 39. Chances of twin birth are higher when age of the mother is more than 35. Mary has gone through a miscarriage at the age of 37. Extreme hard work during pregnancy and age may be the reasons for her miscarriage.
At the end of the investigation, one can conclude that the pedigree analysis of Mary gives a clear view of past and present traits along with complete knowledge of the inherited diseases present in her family members. Although Mary's mammogram and Pap smear tests have yielded negative results, she has a significant risk of developing female cancer in the future. Her daughter and son may be affected by type 1 diabetes later in their lives. Thus, with the help of the questionnaire, health professionals may construct a proper pedigree of a patient and successfully predict the probabilities of chronic diseases.

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