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Genetics. Study of heredity in general and of genes in particular. Modern genetics began in the 19th century with the work of Gregor Mendel, who formulated the basic concepts of heredity. In 1909 the word gene was coined by Wilhelm Johannsen, thus giving genetics its name. In the same year, Thomas Hunt Morgan provided evidence that genes occur on chromosomes and that adjacent genes on the same chromosome form linkage groups. This led to the important discovery that genes affect molecular action at the cell level, as evidenced by human hereditary diseases such as inborn errors of metabolism. Molecular genetics began in earnest in the 1940s when Oswald Avery showed that DNA is the chromosome component that carries genetic information. The molecular structure of DNA was deduced by James D. Watson, Francis Crick, and Maurice Wilkins. These and other developments led to the deciphering of the genetic code of the DNA molecule, which in turn made possible the recombination techniques of genetic engineering, discovered in the 1970s. An understanding of genetics is necessary for the diagnosis, prevention, and treatment of hereditary diseases, the selective breeding of plants and animals, and the development of industrial processes that use microorganisms. See also behaviour genetics; biotechnology.

Storing Your Broken Dreams By dnalady On 2016-02-23

Private DNA Testing is sometimes the happiest or saddest case work.  I have men come in with items to be tested to determine whether they are the biological father; I have women come in with unusual items to determine whether that man is the father of their child (before they tell the man he is the father) - I have lawyers send in their very distraught, unsuspecting clients for DNA, Drug and Alcohol screening but I think the saddest is the person(s) who doesn't want to come in (embarrassed or frustrated by years of searching) but sends in items and ask me to prove/disprove that they are related to the #DNA found on an item.  Their whole life is wrapped up in a overnight carrier box that possibly contains an article with sufficient DNA to test for relatedness.  How sad to call someone and say I'm sorry there was not sufficient DNA present or no I'm sorry there is no genetic relatedness between you and the DNA found on the item submitted.  Lo Siento, I'm sorry, my heart breaks.

When the client hears this information; they often push back and blame the collection process; they question the laboratory accreditations or claim that they were promised something (which is not true) but I know at that moment they had their heart set on an answer and so they are just venting frustration - I also know that for 8 years I have been explaining the same thing over and over again to the heart broken about what we can and cannot do with DNA.  Direct DNA collection by me, is always the best method.  

And so, over the 8 years, I have collected the broken dreams in the form of sneakers,lipsticks,sweatshirts, construction helments,COPD equipment - you name it and it has been sent in for DNA testing of some sort. Once the client finds out that there is no genetic relatedness - they leave these items (returned from the lab) in The DNA Lady's office.  

So now, as I clean out files from 2015 and try to make room for new DNA supplies, Chain of Custody paperwork and the speedy overnight envelopes to various labs around the USA (never pin your hopes on one region - weather can delay or interfere with lab work) I remember the clients involved with the "helmet" - was he the father of my nephew - there's alot of money riding on this?  Cold you think, no not really - when it comes down to reality - everyone deserves to know the truth.  

I have a lipstick that someone thought would possibly belong to their biological mother - seems after testing one item and hearing there is no genetic relationship - this lipstick is doomed to sit in my closet and melt away just like that woman's hopes of finding her true biological mother.  I hope she does not give up but I wish she would take her items back  - in future there may be testing available that could further prove relatedness.

The other items, not mentionable on a public blog, but think Victoria Secret - once tested and found out not to contain "unidentified" DNA - are left here and the men go back to their wives with renewed hope in their relationship.  And, yes, there are those who don't get the results they expect and so once again blame the messenger instead of the actor.  If you think someone is cheating - first check your history - if you have a history of mistrusting people - then it is probably you that has the problem - but if you have never thought of cheating or your #spouse cheating but suddenly you are getting a creepy vibe - I would follow through with proper DNA or Semen Screening - remove the doubts as soon as possible.  But please come back and pick up your article - I have no more room for Size 16 Victoria Secret pink thongs.

There are forensic items proving DUI or DWI by whose blood was on the steering wheel, driver's seat and driver's door - labs won't keep the forensic cases for more than a year - so I have a closet with "evidence" that was never called for by either #defense.

I'm storing your broken dreams for as long as I can but I have no responsibility to store anything after 7 years.  So for those who left items behind in 2007 - your storage time is up; (I should charge #demurrage) - the items will be packed, sealed and sent to disposal along with your dreams of finding the truth, confirming paternity, maternity etc., proving your innocence.  

PreNatal DNA Testing for Predisposition to Genetic Disorders By dnalady On 2010-05-28

As you and your partner prepare to start your family or perhaps you are having your second or third child, there are so many advances in technology today to insure you have a safe and uneventful delivery.  Usually with advanced age of the mother, genetic counseling is advised.  However, it is also in order to consult with a geneticist if you know of family predisposition to genetic disorders.  A geneticist can help you with questions about genetic disorders in your family line.  Here below are some terms to become familiar with before your first visit. 


Abdominal Wall Defect. An abnormal opening in the abdominal wall structures of the fetus near where the umbilical cord inserts into the fetal abdomen and through which the some of the abdominal contents protrude out.

Alphafetoprotein (AFP). A substance made by the fetus that is present in amniotic fluid and maternal blood. AFP levels are measured during pregnancy to screen for neural tube defects and abdominal wall defects.

A prenatal diagnostic procedure done by inserting a thin needle through the woman's abdomen to obtain a small amount of amniotic fluid. The fluid is used to perform prenatal testing including chromosome analysis, AFP measurement and, on occasion, other genetic tests.

Amniotic Fluid. The watery fluid that surrounds the fetus. The fluid is made by the fetus and contains cells on which genetic testing can be performed.

Anencephaly. A neural tube defect that is usually fatal, in which there is an opening in the skull of the fetus and brain tissue is missing.

Autosomal Recessive. A type of genetic inheritance in which both parents must be carriers in order for a child to have the condition. Autosome: Any chromosome other than the sex chromosomes.


Birth Defect. An abnormality present at birth, such as Down syndrome or spina bifida. Birth defects can have many different causes. Not all birth defects can be detected by prenatal genetic testing or ultrasound examination.

Bloom Syndrome. A rare autosomal recessive disease associated with growth problems, an increased risk of cancer and shortened life span. The disease is more common in individuals of Ashkenazi Jewish descent.


Canavan Disease. A severe autosomal recessive disease that causes mental retardation, motor skill and feeding problems, and death early in childhood. The disease is more common in individuals of Ashkenazi Jewish descent.

Carrier. A person who has one normal copy of a gene and one altered gene. A carrier is usually not affected with the genetic condition, but has an increased risk for having an affected child.

Carrier Testing. Genetic testing designed to detect whether or not a person is a carrier for a genetic disease. This term often refers to DNA testing for a genetic disease. This type of test is often performed on a blood sample.

Chorionic Villi Sampling (CVS). A prenatal diagnostic procedure usually done between 10 and 12 weeks of a pregnancy, in which a small sample of developing placental tissue is obtained. The tissue can be obtained either by inserting a thin tube through the woman's cervix or a thin needle through the woman's abdomen. This placental tissue has cells that can be used for genetic testing.

Chromosome. Structures inside every cell that contain thousands of genes. A human cell contains 46 chromosomes (23 pairs), half from the egg and half from the sperm.

Chromosome Abnormality. If all or part of a chromosome is missing or duplicated, the missing or extra genes usually cause serious birth defects.

Cystic Fibrosis (CF). An autosomal recessive disease in which thick mucous builds up in the lungs, gastrointestinal tract and reproductive systems. This build-up leads to pneumonia, diarrhea, poor growth, infertility and shortened lifespan. The disease is most common in individuals of Caucasian and Ashkenazi Jewish descent.


DNA(deoxyribonucleic acid). The chemical material or blueprint packaged within the genes that is passed from one generation to the next. DNA determines the structure and function of all living things.

Down Syndrome. A condition caused by an extra copy of the chromosome #21 that leads to mental retardation (usually mild to moderate), heart defects and characteristic facial features.


Ethnic Background (ethnicity). A race or a family's national origin.


Familial Dysautonomia. A rare autosomal recessive disease that affects the nervous system and causes temperature regulation problems, unstable blood pressure, pain insensitivity, vomiting, frequent pneumonia and poor growth. Typically, it is not associated with mental retardation. The disease is most common in individuals of Ashkenazi Jewish descent.

Fanconi Anemia C. An autosomal recessive disease that causes early childhood anemia, growth problems, birth defects and cancers. The disease is most common in individuals of Ashkenazi Jewish descent.

Fetus. The term used to describe the developing baby between three months of pregnancy to birth.

Fragile X Syndrome. A disorder caused by a gene located on the X chromosome. Fragile X syndrome is the most common cause of inherited mental retardation and autism. Both males and females can be affected with fragile X syndrome or can carry the gene but not show any symptoms.


Gaucher Disease. An autosomal recessive condition that causes fatigue, an enlarged liver and spleen, easy bruising and bleeding, bone pain and/or fractures. In the most severe form (which is rare), the brain and nervous system are also involved. The disease is most common in individuals of Ashkenazi Jewish descent.

Gene (and altered gene). A unit of genetic information made of DNA that is a "blueprint" for the structure and functioning of cells. Human beings have over 30,000 different genes. An altered gene, also sometimes called a mutation, is a permanent change in the gene that can alter its ability to function properly and lead to genetic diseases.

Genetic Counselor. A health care professional trained in the field of genetics who reviews a person's family and medical history and determines the risks for possible diseases or conditions. Genetic counselors explain the benefits, risks and limitations of testing options and procedures and facilitate patient decision-making regarding these options.

Genetic Disease. A condition caused by a change in a gene or many genes. While many diseases may have genetic factors involved, a genetic disease usually refers to something that is hereditary or passed from generation to generation.

Gestational Age. The age of the developing fetus.

Glycogen Storage Disease Type 1a (GSD1a). An autosomal recessive disorder caused by a problem in the enzyme responsible for the release of glucose from glycogen. Affected individuals may experience low blood sugars, growth retardation, enlarged liver and bleeding disorders.


Hemoglobin. A chemical in blood that delivers oxygen to cells.

Hemoglobin Disorder (hemoglobinopathy: A disorder in which the structure or shape of hemoglobin is changed and, as a result, has its function affected. Examples of hemoglobin disorders are alpha or beta thalassemia and sickle cell anemia. Hemoglobin disorders are more commonly found in individuals of African, Middle Eastern, Mediterranean, Asian and certain Hispanic ethnic backgrounds.

Hereditary. Passed from generation to generation.


Maternal Age. The age of the mother of a pregnancy, usually her age at delivery. The risks of having a pregnancy with a chromosome abnormality increase as women age.

Maternal Serum Screening. A blood test done during pregnancy that determines whether there is an increased risk for birth defects such as Down syndrome or spina bifida.

Mucolipidosis Type IV. An autosomal recessive disease that affects the brain and nervous system. Symptoms begin in first year of life and consist of visual problems and severe mental retardation. The disease is most common in individuals of Ashkenazi Jewish descent.


Neural Tube. The structure formed in the first six weeks of pregnancy that forms the spinal column which surrounds the spinal cord and brain.

Neural Tube Defect. A birth defect that involves an opening anywhere in the spinal column from the skull to the bottom of the spine.

Niemann-Pick Type A. An autosomal recessive disease that causes poor growth, mental retardation, physical problems and death early in childhood. The disease is most common in individuals of Ashkenazi Jewish descent.


Placenta. The structure attached to the wall of the uterus in which the fetus is growing. It has many blood vessels to supply nutrients to the fetus through the umbilical cord.


Sex Chromosomes. The X and Y chromosomes. A fetus with an XY set of chromosomes is male and a fetus with an XX set is female.

Sickle Cell Anemia. An autosomal recessive anemia caused by abnormal hemoglobin that makes red blood cells sickle shaped.

Soft Marker (soft sign). Sometimes seen on an ultrasound. Subtle abnormalities that are associated with an increased risk for certain chromosome abnormalities or other birth defects.

Spina Bifida. A neural tube defect that involves an opening anywhere along the spinal column.


Tay-Sachs Disease. A disease caused by a missing enzyme that leads to neurological deterioration and death in early childhood. The disease is most common in individuals of Ashkenazi Jewish descent.

Thalassemia. An autosomal recessive disease caused by abnormal hemoglobin leading to anemia.

Trisomy. A third or extra copy of a chromosome.

Trisomy 18. A severe chromosome abnormality caused by an extra chromosome 18. Most fetuses with trisomy 18 have birth defects and babies with this condition usually die within their first year.


Ultrasound (sonogram). A method of using sound waves to visualize the anatomy of a fetus and the surrounding amniotic fluid and placenta. Measurements taken from the ultrasound help determine the gestational age of the fetus, as well as find certain physical birth defects or abnormalities. Not all birth defects can be detected by ultrasound.

Celebrate DNA Day By dnalady On 2010-05-28

April 25 is National DNA Day, a day created to commemorate the completion of the Human Genome Project in 2003, and to commemorate the discovery of DNA's double helix structure.

How important is this?  To some families, it could mean life or death.  Recently reported in Forbes magazine, a 5 year old boy was diagnosed in Turkey with Bartter' syndrome which is a potentially fatal kidney disorder that afflicts one in 100,000 babies.  In order to confirm the local doctor's diagnosis they sent a blood sample to Yale Medical School.  Rather than confirm if the Turkish doctor's diagnosis was correct, the geneticist went a step further a deciphered the DNA letters for all the baby's genes.  Just a few years ago, such extensive gene sequencing would have been too expensive and time consuming.  The baby's gene scan revealed that the problem was not Bartter's but something else called congenital chloride diarrhea, which also lower salt levels.  The baby, now doing better on a speical diet, was treated with the proper drugs for his condition.  This is one of the first cases where results of DNA gene sequencing altered treatment of a patient.  Gene sequencing will be a final or last resort to try and identify causes of diseases and with the introduction of two new systems, the cost to sequence a whole genome may be reduced to just below $3,000. by year end.  The use of DNA sequencing has not yet been approved for medical testing and insurance won't pay for sequencing but there are those who are willing to state that soon a DNA sequence will cost less than an MRI and certainly will more information to improve care. 

Predictive genetic tests are already on the market for consumers.  Your local DNA collector, who, heretofore has been collecting DNA for family relationship testing such as paternity, grand paternity, maternity, siblingship or as a meansure of additional security offering Child Safety Identification, can now offer to private consumers a predictive genetic screen describing the client's lifetime risk vs. the population risk to succumb to more than 25 autoimmune and other diseases.  A simple call to your local DNA collector and within a week, you could be on  your way to a healthier and better quality of life.  Knowledge is power and if you are strong minded enough to know your risk you can develop a lifestyle that can perhaps delay or eliminate diseases.  It is very important to understand that having a risk does not always translate into getting full blown symptoms of a disease.  Your environment plays a very big role in the development of a disease.

Sequencing tumors in cancer patients have enabled doctor's to switch medicines that disable the growth of certain proteins, thereby shrinking the tumor. This DNA Stuff - there's just so much to talk about - it is not always  baby daddy drama.

However, DNA sequencing takes shape in the future, local New Jerseyians and private consumers in the Metropolitan area have a local DNA collector to offer t hem insight into their own genetic risks and that information along with advice from your doctor may be the key to the sandwich generation and their offspring's better quality of life. 


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