Amish Contributions to Medical Genetics

By Cross, Harold E.; Crosby, Andrew H. | Mennonite Quarterly Review, July 2008 | Go to article overview

Amish Contributions to Medical Genetics

Cross, Harold E., Crosby, Andrew H., Mennonite Quarterly Review

The clinical specialty of medical genetics often deals with the detection and study of rare disorders encountered by chance when individuals or single families come to the attention of clinicians. Understanding the range of clinical findings and their etiology, however, usually requires the accumulation of a larger sample size which is difficult to obtain in most modern diverse populations. The Amish and related Anabaptist groups are exceptional in this regard. Because they generally live in isolated groups established by a limited number of founders, the resulting intermarriage can result in a high rate of consanguinity, which may lead to increased numbers of offspring with autosomal recessive heritable disorders. After nearly fifty years of genetic studies among Amish and other Anabaptist populations, researchers have identified more than 100 such conditions, many with substantial numbers of affected individuals. The study of these conditions provides unprecedented opportunities to enhance our understanding of human biology and the mechanisms of genetic disease.


The Amish have a number of social and demographic characteristics that create unique opportunities for the study of heritable disorders. As a result of their long tradition of intermarriage, or endogamy, and their principled separation from surrounding culture, the Amish tend to form relatively closed societies in which virtually everyone in their community is of German or Swiss Anabaptist ancestry. Because the number of founders was relatively small, present day descendents are nearly all related to each other through a limited number of common ancestors. In addition, until recently, they have tended to have limited geographic mobility; their distinctive dress and customs make it easy to identify members of the group; they frequently provide home-based care for individuals with special needs; their uniformly high standards of living help to minimize the impact of environmental factors in health-related disorders; they generally avail themselves of modern medical technology, which results in the extensive availability of medical records; and their clannish nature and extensive sharing of health issues both locally and through publications such as The Budget newspaper create networks of knowledge about individuals with health problems. (1) All these factors enhance the visibility of genetic disorders among the Amish, particularly those disorders that follow a specific pattern of inheritance known as "autosomal recessive."


Every human being has a distinctive genetic code contained in their DNA, or deoxyribonucleic acid. DNA is comprised of four molecules, called bases (adenine, guanine, cytosine and thymine--usually abbreviated to A, G, C and T). These are connected linearly into long strings, which are compacted and coiled in a highly complex but organized manner within the nucleus of human cells. DNA appears in its compacted form as chromosomes. Each cell contains 46 chromosomes, of which 23 are contributed by each parent. The human genetic code consists of triplets of these nucleic acids (i.e., specific sequences such as CGT, or AAA) which always select a specific amino acid that contributes to the construction of a protein. A gene is simply a string of such triplets, and their order determines the arrangement of amino acids that together make up a protein such as insulin, for example. Each of our trillions of cells contains about three billion DNA bases that make up about 25,000 genes. Together, these direct the synthesis of our body tissues and regulate the biochemical processes necessary to sustain life. With the exception of the genes on the sex chromosomes, we all inherit two copies of each gene, one from each of our parents.

Since most genes are normal, we often become aware of specific genes only when they change in some unusual manner. These changes are called mutations. …

The rest of this article is only available to active members of Questia

Sign up now for a free, 1-day trial and receive full access to:

  • Questia's entire collection
  • Automatic bibliography creation
  • More helpful research tools like notes, citations, and highlights
  • Ad-free environment

Already a member? Log in now.

Notes for this article

Add a new note
If you are trying to select text to create highlights or citations, remember that you must now click or tap on the first word, and then click or tap on the last word.
One moment ...
Default project is now your active project.
Project items

Items saved from this article

This article has been saved
Highlights (0)
Some of your highlights are legacy items.

Highlights saved before July 30, 2012 will not be displayed on their respective source pages.

You can easily re-create the highlights by opening the book page or article, selecting the text, and clicking “Highlight.”

Citations (0)
Some of your citations are legacy items.

Any citation created before July 30, 2012 will labeled as a “Cited page.” New citations will be saved as cited passages, pages or articles.

We also added the ability to view new citations from your projects or the book or article where you created them.

Notes (0)
Bookmarks (0)

You have no saved items from this article

Project items include:
  • Saved book/article
  • Highlights
  • Quotes/citations
  • Notes
  • Bookmarks
Cite this article

Cited article

Citations are available only to our active members.
Sign up now to cite pages or passages in MLA, APA and Chicago citation styles.

(Einhorn, 1992, p. 25)

(Einhorn 25)


1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25,

Cited article

Amish Contributions to Medical Genetics


Text size Smaller Larger Reset View mode
Search within

Search within this article

Look up

Look up a word

  • Dictionary
  • Thesaurus
Please submit a word or phrase above.
Print this page

Print this page

Why can't I print more than one page at a time?

Full screen

matching results for page

Cited passage

Citations are available only to our active members.
Sign up now to cite pages or passages in MLA, APA and Chicago citation styles.

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn, 1992, p. 25).

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences."1

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25,

Cited passage

Welcome to the new Questia Reader

The Questia Reader has been updated to provide you with an even better online reading experience.  It is now 100% Responsive, which means you can read our books and articles on any sized device you wish.  All of your favorite tools like notes, highlights, and citations are still here, but the way you select text has been updated to be easier to use, especially on touchscreen devices.  Here's how:

1. Click or tap the first word you want to select.
2. Click or tap the last word you want to select.

OK, got it!

Thanks for trying Questia!

Please continue trying out our research tools, but please note, full functionality is available only to our active members.

Your work will be lost once you leave this Web page.

For full access in an ad-free environment, sign up now for a FREE, 1-day trial.

Already a member? Log in now.