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  • Mitochondrial DNA: A Genetic and Genealogical Study

    Thomas H. Roderick, Mary-Claire King, and Robert Charles Anderson

    Published Date : November 27, 1992

    Genetic technology has advanced at an explosive rate in the last few years. A major technical advance of interest to genealogists is the capability now to identify, without doubt, first-degree relatives (parents, full siblings, children) of any given individual. This capability extends as well to more distant relatives, but with lower assurance the farther the genealogical relationship (M. C. King, Molecular Genetic Medicine 1 [1991]:117-31). Mutations or changes in mtDNA are rare, but enough have occurred in the course of human evolution that the great majority of maternal lineages can be distinguished from each other. Studies of variation in mitochondrial DNA (mtDNA) have helped population geneticists and anthropologists gain more understanding of human evolution and also the relationships among different primates. Recent studies of variation in mtDNA have led to insights into human evolution, particularly the waves of human migration out of Africa within the last half-million years (R. L. Cairn, M. Stoneking and A. C. Wilson, Nature 325 [1987]:31-36). Studies of mtDNA could also be of significant genealogical value.

    A unique opportunity for genealogists is the new ability of geneticists to analyze an individual’s mtDNA. DNA is the biological substance that makes up the genes of most living material. Most DNA is inherited equally from each parent. The mtDNA, however, is different in that it is inherited principally from the mother; that is, each of us, male and female, inherits rather specific mtDNA only through his or her matrilineal (dubbed “umbilical” by some genealogists) line. In an ancestor table, this type of DNA would therefore be inherited by us through individuals numbered 3, 7, 15, 31, 63, 127, etc., i.e. all numbers = 2N+1, where N is the matrilineal ancestral number in the previous generation. It is ONLY ONE ancestral line (see Figure 1). Thus, for example, in the fourth generation back I inherit my mtDNA from only individual #31, my mother’s mother’s mother’s mother, and she from her mother, and so on. Furthermore, I and all my mother’s children, as well as anyone who has a matrilineal line that intersects my matrilineal line, will share the same mtDNA. To be sure, as we go much further back we would encounter mutations or changes that took place in the mtDNA. But in general, our mtDNA describes our matrilineal heritage for many generations. Comparisons of mtDNA among us can potentially verify the matrilineal lines we have constructed through genealogical research and point to other, more distant relationships.

    Genealogists usually find matrilineal lines more difficult to trace than lines extending through males. The surname is a strong advantage in linking relationships between generations. Also in former times names of female spouses - both first and last names - were simply ignored in church, civil and social records. Certainly this situation is still true today, although less frequent.

    Some long and potentially very useful matrilineal lines have already been published. A. J. Camp, building on the work of W. T. J. Gun and O. Forst de Battaglia, presented the 21-generation matrilineal lines of Queen Victoria, which can be extended forward another five generations to Prince Philip, Duke of Edinburgh (The Genealogist’s Magazine 13[1960]:241-244). W. T. J. Gun in his seminal article (The Genealogist’s Magazine 3[1927]:6-9) said this line of Victoria also intersected the matrilineal lines of Empress Catherine II of Russia, Charles II, James II, and William III of England; Louis XIII, Louis XLV and Louis XV of France; and various emperors and rulers of Spain and Sardinia. In an earlier issue the same year as the Camp article is a 13-generation matrilineal line of Mr. Antony Armstrong-Jones, former husband of Princess Margaret (13:132). Recently William Addams Reitwiesner of Washington, D.C. has reassembled many works on royal and noble genealogy into a set of “Matrilineal Descents of the European Royalty,” 16 microfiche, available at NEHGS and a few other libraries.

    In the U.S., several matrilineal lines have been published as such. J. Bradley Arthaud, M.D., using the term “umbilical” in this context for the first time, published [146] his father-in-law’s line from Ann Churchman who m. John Rogers (The American Genealogist [TAG] 48 [1972]:246-47). Jane Fletcher Fiske’s line from Eva Vinhaegen who m. Albany, N.Y. 26 October 1692 Johannes Martense Beeckman appeared in TAG 49(1973):114. Henry H. Arthur submitted lines descending from Phillppa Smith (b. ca. 1639, dau. of Rev. Henry and Dorothy (Smith of Wethersfield) who m. John Birdsey of Strafford, Conn. (TAG 49 [1973]:114-115). John Coddington published his umbilical line (TAG 50[1974]: 65-75, 171,84) showing descent from Ann ___, perhaps a native of the parish of Skelton-in-Cleveland, co. York, who m. there as his first wife 15 May 1670 Joshua Hoopes, later of Bucks Co., Penn. Mary Jane Barton Shurts published a line from Maria Welen who m. Symon Kornelisz de Vries of Dordrecht, Holland (TAG 53 [1977]36); Robert C. Anderson, William A. Reitwiesner, and Gary B. Roberts submitted an eleven-generation matrilineal descent from Mary ___ (d. 1650), wife of Thomas Jones of Guilford, Conn., to President Gerald R. Ford (TAG 53[1977]:56-57); and David C. Dearborn published a line from Sarah ___, (b. prob. England, d. Rowley, Mass. 1681), who m. Samuel Platts of Rowley (TAG 54[1978j:55). Bruce C. MacGunnigle published A Completed Matrilinear Line, descending from Catherine (perhaps Hyde), wife of Rev. Obadiah Holmes of Newport (TAG 54[1978]: 87). The General Society of Mayflower Descendants is publishing a series of books and drafts on multi-generation complete descents of Mayflower passengers. These works, and the projected volumes by Elizabeth Pearson White on the progeny of John Howland (John Howland of the Mayflower, vol. 1 [1990] covers descendants of daughter Desire [Howland] Gorham of Plymouth and Cape Cod), and offer opportunities for today’s genealogists to connect to well-documented matrilineal lines. Also useful connections can no doubt be made to the many fifth-generation matrilineal descendants of Lydia (___) Scottow, wife of Capt. Joshua Scottow of Boston, Mass. and Scarborough, Maine, described and documented by Julie Helen Otto (NEXUS 9 [1992]:24-8, 57-60). Published ancestor tables where matrilineal lines are carried five, six or more generations are usually not sufficiently documented, but they provide data to be developed.

    The Study

    A study is underway that has three objectives:

    1. For the genealogist, to define and document long matrilineal lines and verify many of them through genetic analysis;

    2. For the genealogist and population geneticist, to gain further insight into the structure of early colonial populations, and to obtain further information on the genealogical and genetic background of immigrants to North America;

    3. For the geneticist, to determine more precisely the mutation rates in various portions of the mitochondrial DNA.

    We are seeking documented matrilineal lines from genealogists. Lines extending back eight or more generations will be the most useful. Matrilineal lines extending back to colonial North America or further are of particular interest. Today these will be at least ten generations or more. Even longer lines, extending beyond colonial times to Europe or the British Isles, could be especially valuable. It is these longer lines that offer the best opportunity for further genealogical and genetic analysis. However, any matrilineal line of eight or more generations will be useful, no matter what the ethnic background.

    Dates and places should be part of each generation. Male spouses in each generation should be included. Good secondary sources, fully cited, will often suffice if primary evidence is not available. We hope that those submitting lines to the project will also agree to provide a small sample of blood (professionally drawn) at a later time if their lines are chosen for mtDNA analysis. Submitters should include wherever possible names and addresses of close relatives with the same matrilineal ancestry.

    Participants will be particularly interested to know what other matrilineal lines intersect theirs, and should therefore agree to share this information with others whose lines intersect. Participants may request anonymity, but we hope instead they will agree to permit the publication of matrilineal lines (with full credit to the participant or compiler) if such is deemed worthwhile at a later date.

    When pedigrees have been assembled and collated, some will be chosen for mtDNA analysis. The choice will depend on the length of the line and how many other lines have the same origin At that time participants or a close relative sharing the same matrilineal line will be asked to provide a small sample of blood drawn by a physician or through a hospital laboratory, to be sent to Dr. Mary-Claire King’s laboratory at the University of California, Berkeley, for analysis. They can decide on this phase of collaboration when the full details on the procedure for donating and shipping the small blood sample are received. If mtDNA analysis is done, submitters will be informed whether the compiled lines are confirmed by genetic analysis. Confirming genealogical relationships will depend on the rarity of the type of mtDNA. Since the most common type is roughly one percent of the Caucasian population and most types are much rarer, DNA analysis in most cases will be genealogically very useful. All participants will be kept fully informed of progress as the work proceeds, and will be fully apprised of results or publications that emanate from the project.

    Submit genealogical information on matrilineal lines to T. H. Roderick Ph D., Center for Human Genetics, Municipal Bldg., P.O. Box 770, Bar Harbor, ME 04609-0770.

    Thomas H. Roderick, PhD., is a geneticist; see his article on “More Presidential Trivia: Who Was Our Most Inbred President?” (NEXUS 7[1990):57-58). Mary-Claire King, Ph.D., is Professor of Genetics at the University of California, Berkeley. Robert Charles Anderson, F.A.S.G., is director of the NEHGS Great Migration Study Project.

    16----17 18----19 20----21 22---23 24---25 26---27 28---29 30---31*

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    8------------------9 10--------------11 12 -----------13 14---------15*

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    4--------------------------------5 6-------------------------7

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    Figure 1: Ancestor table numbers showing the matrilineal line, i.e. only numbers 1,3, 7~ 15,31 (asterisks) through which mitochondrial DNA is inherited. This example covers only five generations. No. 1 * and all his or her full siblings (or half siblings through the mother) will have the same mtDNA.

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