genetics

When Angelina Jolie revealed that she had undergone a double mastectomy
to avoid breast cancer, my heart went out to her. She has a gene
mutation in what’s known as BCRA, which increases her risk of getting
breast and ovarian cancer.

Some people contend that a lot of the disease and conditions that people
think of as hereditary actually have nothing to do with your genes, and
everything to do with how you were carried and raised.

Color blindness is an eye condition that affects how the patient sees
color. Pigments that detect color variations do not work properly
causing difficultly differentiating between certain colors or shades of
the same color.

Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present. 

Researchers in India recently published a study in the journal Fertility and Sterility supporting D-Loop genotyping to predict risk of endometriosis.

I remember how fantastic it felt when the orthopedic doctor told my
mother I would be about 6-feet 8-inches tall at full growth. I would
tower over everyone around me in just a few years. His prediction ended
up falling about four inches short.

The future of embryo testing may include complete genetic profiles
aiming to predict the possibility of contracting or developing genetic
diseases.

Researchers from the NYSCF (New York Stem Cell Foundation) partnered with CUMC (Columbia Medical Center) to create a special technique to stop mitochondrial diseases from genetically passing on to children. The technique is in the earliest clinical stages.

A gene family is a group of genes that share important characteristics.
In many cases, genes in a family share a similar sequence of DNA
building blocks (nucleotides).

A variety of genes are involved in the control of cell growth and
division. The cell cycle is the cell’s way of replicating itself in an
organized, step-by-step fashion.

There are two types of cell division: mitosis and meiosis. Most of the
time when people refer to “cell division,” they mean mitosis, the
process of making new body cells. Meiosis is the type of cell division
that creates egg and sperm cells.

Each cell expresses, or turns on, only a fraction of its genes. The rest
of the genes are repressed, or turned off. The process of turning genes
on and off is known as gene regulation. Gene regulation is an important
part of normal development.

Proteins are large, complex molecules that play many critical roles in
the body. They do most of the work in cells and are required for the
structure, function, and regulation of the body’s tissues and organs.

A gene is the basic physical and functional unit of heredity. Genes,
which are made up of DNA, act as instructions to make molecules called
proteins. In humans, genes vary in size from a few hundred DNA bases to
more than 2 million bases.

DNA, or deoxyribonucleic acid, is the hereditary material in humans and
almost all other organisms. Nearly every cell in a person’s body has the
same DNA. Most DNA is located in the cell nucleus (where it is called
nuclear DNA).

Cells are the basic building blocks of all living things.
The human body is composed of trillions of cells. They provide structure
for the body, take in nutrients from food, convert those nutrients into
energy, and carry out specialized functions.

Doting parents often wonder just how tall their little ones will grow.
According to Dr. Alex Roche, adult height can be predicted using a
simple mathematical equation using parent height, current child height
and current child weight.

When a potential sperm donor approaches a trusted sperm bank, a trial
sample of sperm is tested before samples are accepted for use. This
testing is part of the screening process at trusted sperm banks, but the
testing is not 100% accurate.

Genetic testing is an important part of diagnosing and treating chromosomal abnormalities. Currently, karyotyping is the most prevalent form of prenatal genetic testing, but the results of microarray testing appears to be more accurate.

Let’s face it – dimples are adorable. When a little kid smiles with
those expressive indentations on both cheeks, it’s hard not to think of
the innocence and congeniality of Shirley Temple or other child stars.

When I found out I was having twins one of the first things that came to mind was my paternal aunt. She was the mother of fraternal twins. Then I realized my husband’s sister also gave birth to fraternal twins.

I come from a blue-eyed, brown-haired family. Every person in my immediate lineage --cousins, aunts, uncles and grandparents— has blue eyes and curly brown hair.

CAH or congenital adrenal hyperplasia is a disease caused by gene mutation. The condition affects cortisol, cholesterol and adrenal gland function. All CAH patients have some level of impaired fertility.

Whether or not twins are genetic has long been disputed in science. If you’re a mother of twins, you’ve probably had many other women come up to you and ask whether or not there are other sets of twins in your family.

Preconception care is a health plan that focuses on taking steps to improve the health of the man and woman before they conceive.

Recruiting newborns into cystic fibrosis studies is important to research, but there are no studies into how parents feel about including their recently diagnosed newborns in treatment studies.

Barth Syndrome is a rare genetic disorder only associated with the X
chromosome. The condition affects growth and causes cardiomyopathy and
neutropenia. The study included males with an official diagnosis of
Barth Syndrome (BTHS).

All pregnant women in Canada, regardless of age, should be offered, through an informed counselling process, the option of a prenatal screening test for the most common clinically significant fetal aneuploidies in addition to a second trimester ultrasound for dating, assessment of fetal anatomy, and detection of multiples

I remember when my wife took genetics class she came home with this long
list of human traits that passed from father to children. We held on to
that list until we started a family and suffice it to say, I was not at
all thrilled when her list did not appear to be accurate.