1. Parenting
When You Really Want to Know, the Y Chromosome May Hold the Answer
By Patrick Williams, Ph. D. , Benchmark Genetics

As a species, we have always been fascinated with the history of our ancestry. Genealogy, the study of our family ancestry, is no longer the hobby of the social elite. It is now a national pastime. With the advent of the Internet, genealogy has become firmly established as a focal point within American society. There are hundreds of Web sites on thousands of families, all offering information to those interested in tackling their family's roots. However, as one becomes involved in a search of the family history, the process can become daunting. The written, oral, and photographic history of a family may at times provide only clues to its ancestry. Fortunately, a new technology is available which can provide real answers.

A spin-off of the Human Genome Project, Y chromosome testing has proven very useful as a tool for genealogy research. Y chromosome studies have been performed on populations from around the world to evaluate the relationships between ethnic groups and closely related families. The human species has 23 pairs of chromosomes, 22 which appear the same, and the x and y chromosomes. If you are a male, you have the standard 22 pairs, plus one x and one y chromosome. If you are a female, you will have the standard 22 pairs, plus two x chromosomes. Chromosomes contain the genetic code that determine our physical appearance and how we function as a living being. The genetic code is contained within a molecule commonly referred to as DNA (deoxyribonucleic acid). In the 1980's scientists discovered that the genetic code contained within chromosomes does not always direct the synthesis of cell products, but contained highly variable regions of "nonsense" DNA. It was later discovered that these regions could be used as markers for the identification of individuals. The use of these DNA markers in criminal forensics is common throughout the world today.

The Y chromosome, like the other 22 pairs within the cell, also contains non-coding variable regions of DNA. These regions have been rigorously studied and the data generated has proven extremely useful in population studies. It has been discovered that there is significant variability within the polymorphic regions of the Y chromosome between populations, but there is little or no variability between father and son. The Human Genome Project has given us an invaluable tool for the verification of male lineage.

Probably the most famous case to date has been the verification of male lineage among the descendents of Thomas Jefferson and Sally Hemmings. Y chromosome testing has revealed that "a" Jefferson was most likely the father of Sally Hemmings youngest son, Eston Hemmings. Studies of the Y chromosome have also been used to study the male lineage of U.S. Supreme Court Justice John Marshall Harlan.

Y chromosome studies are performed on blood samples collected from suspected family males. The DNA is extracted from the cells and specific regions of the Y chromosome are targeted for analysis. These regions are subjected to a process call the polymerase chain reaction (PCR), which produces thousands of copies of the target DNA. These copies are then sorted and analyzed. The data generated by this process will either confirm or deny the suspected common male lineage between the samples. Y chromosome testing is not paternity testing, as it relies only on the analysis of the male DNA.

Many times in the process of searching through our family histories, we reach points where assumptions have been made regarding the family lineage. The presence of "indiscretions" within a family may be omitted or covered-up, depending on the era when they occurred. Recent studies that we have participated in have both verified and denied male lineage. However, when you really want to know, Y chromosome testing may be the best new technology available to answer that question.

Related Resources:

Molecular Genealogy: Can DNA Replace Lost Family Records
The Molecular Genealogy Research Group is working to build a database of genetic family trees which will eventually enable people with blocked genealogies such as adoptions, illegitimacies or missing records to trace their origins.

Genetic Genealogy Links
The field of molecular genealogy (genetic genealogy) is fairly new and growing fast. These sites will help you learn how the genetic markers in DNA can help you to find your ancestors.

Famous Genealogies
Fun and fascinating family trees including royalty, nobility, presidents, famous historical figures, famous women, Greek and Roman gods, and a variety of fictional characters from books and television.

Basic Genetics
Find out about the history of genetics-related research, basic concepts in genetics and the relationship between genetics and disease from Genetics Guide, Laura L. Jelliffe, Ph.D.  

 


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