Genetics and Family History

  • Kelly Mullholand Behm


This chapter describes principles of genetics and family history that are relevant to the practice of clinical endocrinology. It begins with a review of historical eras that provides context for how two seemingly distinct specialties have become intricately interwoven. Genetics concepts are then explained in a progression from basic to complex, each section building on the previous, with clinical examples included to help readers develop a comprehensive understanding without becoming overwhelmed. Topics covered include DNA and RNA structure and function, the genetic code, transcription, translation, exons, introns, gene expression, gene locus, alleles, genotype, phenotype, Mendelian and non-Mendelian patterns of inheritance, epigenetics, gene mutations, chromosomal structural and copy number abnormalities, and cytogenetic and molecular genetic testing methodologies and interpretation.

The Mendelian inheritance section outlines the three laws of Mendelian inheritance and associated inheritance patterns including homozygous and heterozygous, autosomal and pseudoautosomal, dominant and recessive. Non-Mendelian patterns of inheritance described include co-dominance, linkage, sex-linked, multiple alleles, complex polygenic or multifactorial, and mitochondrial.

Gene mutations discussed include point, missense, nonsense, insertion, deletion, duplication, frameshift, substitution, and repeat expansions. Chromosomal abnormalities described include translocations, deletions, duplications, inversions, isochromosomes, dicentric, ring, and aneuploidies resulting from meiotic and mitotic nondisjunction.

The genetic testing section covers karyotyping, fluorescent in situ hybridization, microarrays, gene expression analysis, direct sequencing analysis, and methylation analysis. The section on family history provides information about publicly available tools for collecting genetic and endocrine history data, as well as a detailed description of how to create and use pedigrees to aid in clinical decision-making and communication with patients and their families.

The chapter concludes with a practical discussion of nursing implications, a recommended reading section, and an extensive list of supplemental educational materials and resources. Supplemental materials include a genetics glossary, a list of online resources for information on genetics concepts introduced within the chapter, a list of genetics-based peer-reviewed journals, a list of professional organizations and societies for nurses interested in genetics, and a list of current textbooks on genetics.

The recommended reading section contains a list of online and print publications providing additional in-depth information on genetics in human endocrinology, nursing competencies in genetics, using analogies in patient education, legal and ethical implications of genetics in the clinical setting, issues surrounding disclosure of genetic diagnoses, clinical case studies, interactive pedigree software, epigenetics, molecular genetics testing, gene therapy, additional internet genetics resources, and the future of genetics in endocrinology.


Genetics DNA Expression Inheritance Mutation Testing Pedigree 







Syndrome causing short stature, unusual facial features, and skeletal abnormalities first identified by researchers named Miller, McKusick, and Malvaux






Array comparative genomic hybridization


Adrenocorticotropic hormone


Androgen receptor




Base pairs


Beckwith–Wiedemann syndrome




Cytosine-adenine-guanine nucleotide sequence


Cyclin dependent kinase inhibitor 1B


Complementary DNA


Comparative genomic hybridization


Methyl group


Acetyl group


Copy number variants or copy number variations


Cytosine-phosphate-guanine (cytosine and guanine separated by a phosphate)


Cytochrome P450 family 21 subfamily A member 2

del or dn



Derivative chromosome




Deoxyribonucleic acid


Familial glucocorticoid deficiency


Fibroblast growth factor receptor 3


Fluorescent in situ hybridization


Fragile X mental retardation 1




Gene expression microarray


Growth hormone


Guanine nucleotide-binding protein alpha subunit or g-protein alpha subunit


High-density single nucleotide polymorphism array








Kilobase pairs


Maternally derived chromosome


Megabase pairs


Multiple endocrine neoplasia type 1 or menin 1


Multiple endocrine neoplasia type 4


Maternally inherited diabetes and deafness or mitochondrial diabetes and deafness




Maturity-onset diabetes of the young type 5


Messenger RNA


Mitochondrial DNA




Next-generation sequencing


Short arm of a chromosome


Polycystic ovarian syndrome


Polymerase chain reaction


Phosphate regulating endopeptidase homolog X-linked


Protein tyrosine phosphatase, non-receptor type 11


Long arm of a chromosome


Renal cysts and diabetes syndrome


Ribonucleic acid


Ribosomal RNA


Short stature homeobox


Single nucleotide polymorphism


Single nucleotide polymorphism array


Son of sevenless homolog 1 or SOS Ras/Rac guanine nucleotide exchange factor 1


SRY-box 3 or SRY-related HMG-box 3 (Sex-determining region Y-related high-mobility-group box transcription factor 3)


Sex-determining region Y






Transfer RNA


Thyroid stimulating hormone




Von Hippel-Lindau


Whole-exome sequencing


Whole-genome sequencing


Wild type allele


X chromosome controlling element


X-inactivation center


X inactive specific transcript


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Key Reading

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Kelly Mullholand Behm
    • 1
  1. 1.OrlandoUSA

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