Primer in Genetics and Genomics, Article 4—Inheritance Patterns

Aiello, Lisa B.; Chiatti, Beth Desaretz

doi:10.1177/1099800417708616

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…Whether involving an SNP or a mutation involving a larger sequence of DNA, variations in genotype may be associated with inherited risk of disease. (NIH, 2013) Readers should consult Aiello and Chiatti's (2017) discussion in the fourth paper in this primer series for an excellent overview of the topic of inherited risk. Early work to define gene-disease associations focused on "simple" Mendelian models in which a single gene mutation resulted in high penetrance of the disease phenotype in a family, such as with cystic fibrosis or Huntington's disease.…”

Section: Utilization Of Genotype-phenotype Associations In Clinical Pmentioning

confidence: 99%

Primer in Genetics and Genomics, Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Wright

Fessele

2017

Biological Research For Nursing

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As nurses begin to incorporate genetic and genomic sciences into clinical practice, education and research, it is essential that they have a working knowledge of the terms foundational to the science. The first article in this primer series provided brief definitions of the basic terms (e.g., genetics and genomics) and introduced the concept of phenotype during the discussion of Mendelian inheritance. These terms, however, are inconsistently used in publications and conversations, and the linkage between genotype and phenotype requires clarification. The goal of this fifth article in the series is to elucidate these terms, provide an overview of the research methods used to determine genotype–phenotype associations, and discuss their significance to nursing through examples from the current nursing literature.

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Section: Utilization Of Genotype-phenotype Associations In Clinical Pmentioning

confidence: 99%

Primer in Genetics and Genomics, Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Wright

Fessele

2017

Biological Research For Nursing

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“…The fourth article in the PGG series, "Inheritance Patterns," provides clear definitions and examples of Mendelian, non-Mendelian, mitochondrial, and multifactorial inheritance (Aiello & Desaretz Chiatti, 2017). With the rapid knowledge expansion in genomic science, the non-Mendelian patterns are more clinically relevant.…”

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confidence: 99%

Primer in Genetics and Genomics Series: Final Remarks

Alexander

2018

Biological Research For Nursing

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Personalized medicine, precision medicine, or genomic medicine, regardless of the name, is focused on tailoring health care to individual preferences, lifestyle, environment, and genetic variability. This approach aims to treat the whole person based on their differences from other patients rather than focusing on similarities in pathology and symptoms. The move toward personalized medicine has escalated in recent years due to accelerations in technologic advances and informatics and increased knowledge of individual genetic and genomic variability. Nurses are at the forefront of this movement, as we have always treated individuals rather than diseases and symptoms. The number of nurse-driven research projects that include genetic or genomic data is increasing exponentially with a focus on translation to the patient. As precision medicine becomes a reality, genetic and genomic concepts will be relevant not only to nurse researchers but also to educators and clinicians at all levels. The goal of the Primer in Genetics and Genomics (PGG) series that ends with the current issue of Biological Research for Nursing (BRN) was to educate all nurses on genetic, genomic, and epigenetic concepts relevant to nursing science and practice. The PGG series was conceived through collaboration between leadership of the International Society of Nurses in Genetics (ISONG) and the BRN editorial staff. As the guest editor for this series, I solicited articles from ISONG members actively conducting genetic or genomic research, working in genetic clinics, and teaching genetic and genomic concepts in nursing schools. Ultimately, we published seven articles covering the basics of genetics, genomics, and epigenetics with a focus on educating nurses. The first article in the series, "DNA, Genes, and Chromosomes," explains the basic scientific tenets of gene transcription and translation and genetic and epigenetic mechanisms of variability including a historical review of how the science has developed in these areas (Dorman, Schmella, & Wesmiller, 2016). The article defines deoxyribonucleic acid (DNA) and chromosomes and clarifies the relationships among DNA, genes, and chromosomes. A table of online genomics resources is included in this article to support future learning needs of readers. This initial article is an important resource for beginning nurse scientists, nursing students and faculty at all levels, and especially for the practicing nurse who may not have had previous exposure to the basics of genetics, genomics, and epigenetics.

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Brief Description of Inheritance Patterns

Kövesdi

Patócs

2019

Experientia Supplementum

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Primer in Genetics and Genomics, Article 4—Inheritance Patterns

Cited by 4 publications

References 6 publications

Primer in Genetics and Genomics, Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Primer in Genetics and Genomics, Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Primer in Genetics and Genomics Series: Final Remarks

Brief Description of Inheritance Patterns

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