Principles of Genetics and Genomic



Principles of Genetics and Genomic
QUESTION
your role as a Nurse Preceptor in your organization, you are preparing a training session for a group of new nursing graduates to familiarize them with principles of genetics and genomics using data from completing a three-generation family pedigree on yourself, a family member, or a friend. Your presentation will include how to perform a genetic assessment and include a three-generation family pedigree and genogram with standard symbols, explain possible patterns of disease, and identify possible indications for genetic and genomic services. Based on your data findings, you will explain possible associated patterns of disease and possible indications for genetic and genomic services.
Instructions

After completing a three-generation family pedigree and genogram on yourself, a family member, or a friend, prepare a presentation that includes the following principles of genetics and genomics:

Three-generation family pedigree and genogram with standard symbols with interpretation of results explained using standard terminology
Explain possible associated patterns of disease
Client education pertinent to the data findings
Possible indications for genetic and genomic services
Principles of Genetics and Genomic

ANSWER
In this presentation, we will be exploring the principles of genetics and genomics with the help of a Three-Generational pedigree and genogram obtained from a friend diagnosed with hemophilia. This bleeding disorder causes blood to clot poorly. The genetic disorder was primarily diagnosed in the patient’s grandfather from the pedigree. In hemophilia, gene mutations occur in either factor VIII or IX, located on X chromosomes. Males have XY chromosomes indicating that the grandfather X-chromosomes have the hemophilia allele fostering the development of the disease. The patient’s mother and aunt inherited the gene allele causing hemophilia (CDC, 2021). However, they become carriers since each female is a potential carrier of the allele. The Y chromosome passed to the son negates the prognosis of a viable diagnosis of hemophilia for the uncle. The patient’s mother passed the X gene with the allele to the daughter conclusively indicating a diagnosis of hemophilia.

Each pregnancy has a one-in-four (25%) chance that the child is a hemophilia boy or a heterozygous girl. If a woman is a carrier of hemophilia and the father does not have hemophilia, the child has a 50% chance of inheriting their mother’s hemophile allele and developing hemophilicosis.
Fathers only pass their lone X chromosome to daughters; therefore, each daughter in the family is a carrier., The sons inherit the father’s Y chromosomes. Hence they cannot inherit the hemophilia allele. The probability of having a son with hemophilia is 50%, and 50% for a heterozygous daughter. The patterns are the same all down the family tree for the family.

Diseases caused by mutations in a single gene are transmitted in a coherent pattern, depending on the gene’s location and whether one or two functional alleles are required. Dominant mutations cause disease when only one copy of the transformation is present, whereas recessive mutations cause disease when two mutant copies are current. Disorders caused by mutated x chromosomes can be passed in a dominant or recessive pattern.  Each faulty gene on an X chromosome causes illness. Males are frequently afflicted in families with X-linked recessive disease, whereas females are seldom affected in each generation. Females have two X chromosomes; thus, if all gene copies are mutated, they remain unaffected.

Familial history of a genetic illness, congenital disability, chromosomal problem, or hereditary malignancy.
Abnormal test findings indicating a hereditary or chromosomal disorder
A child whose parents are related are more likely to inherit some genetic illnesses.
Two or more miscarriages, a stillbirth, or the death of a newborn.
One’s ethnic heritage increases the likelihood of having or passing a certain genetic condition.

Principles of Genetics and Genomic


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