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Heredity and Disease
Transcript of Heredity and Disease
DOWN SYNDROME About 20 percent of all human conceptions have a chromosome abnormality. The majority of fetuses with a chromosome abnormality abort and end pregnancy. Gene Therapy: a technique for replacing defective genes with normal ones in certain tissues of a person affected with hereditary disease. DNA: Chemical substance that carries all of a person's genetic information (Genes) in chromosomes. Chromosomes: Carries an individual's DNA in the nuclei of cells. Chromosomal Abnormalities Karyotype: visual display of all of a person's chromosomes. These can be used to detect
Chromosome Abnormalities Hereditary Diseases Any disease resulting from the inheritance of defective genes or chromosomes from one or both parents. Genes -> DNA -> Chromosomes True or False? If you believe it's
TRUE, RAISE YOUR HAND Each chromosomes, depending on its size, contains thousands of different genes whose information is encoded in the chemistry of the DNA. Together,
these genes determine the uniqueness of each human being.
-Identical twins share identical
sets of genes but differ in their
traits to some extent because
of environmental effects on the
expression of their genes Because chromosomes occur in pairs, each person carries two copies of each gene; these may be identical in information or differ slightly from one another. Prenatal Testing Congenital defects are caused by one or more of the following factors:
-Presence of an abnormal chromosome or abnormal number of chromosomes
-A chemical error in one or more genes inherited from parents; the defective gene alters body structure or functions
-The effect of toxins, drugs, or other
environmental factors on normal fetal
development - Observable physical abnormalities of the body’s structure or functioning that occurred during development in the mother’s uterus. If you believe it's
TRUE, RAISE YOUR HAND True or False? Hereditary diseases are ALWAYS
caused by defective
chromosomes of genes True! If you believe it's true, STAND UP
If you believe it's false, STAY SEATED True Or False? If you believe it's
TRUE, RAISE YOUR HAND EVERY newborn is examined immediately after birth for any observables physical abnormalities True! You inherit from each parent about 2,000 to 3,000 genes FALSE! You inherit from each parent about 25,000 to 30,000 genes! “Genes control the chemistry that keeps you alive, your particular
disease susceptibilities, and to a large extent, your overall health and life
expectancy” (330) Genes are your genetic makeup!
example: Having the blue-eyed gene. FALSE! Each person carries 23 pairs of chromosomes (a total of 46) in virtually every cell of the body. The only major exception is red blood cells, which lose their chromosomes before they enter the blood circulation Males and females differ only in one pair of chromosomes, called the sex chromosome.
Men have an XY pair and
Women have an XX pair. True Or False? If you believe it's
TRUE, RAISE YOUR HAND The sex, or gender, of a child is determined by BOTH the mother and father of the child. FALSE! Mothers only give out X's
Fathers give out X's and Y's
GENDER OF CHILD IS DETERMINED BY
THE FATHER! Congenital (Birth) Defect 3% to 4% of newborns in America have an observable congenital (birth) defect Here is the pair of sex chromosomes we talked about earlier! True or False?
This pair of chromosomes belongs to a FEMALE. FALSE! A pair of XY sex chromosomes
belong to a MALE! Errors may occur when chromosomes are distributed to sperm or egg.
The distribution may result in too few or too many chromosomes being transmitted.
These chromosomal abnormalities result in hereditary diseases. Having an extra chromosome 21 causes Down Syndrome -This occurs in about 1 in every 700 babies born in the United States.
However, the rate begins to increase in women around age 35 and increases dramatically after age 40.
-Because of the increase in Down syndrome, all pregnant women over age 35 are advised to undergo genetic tests of fetal cells to determine if they are carrying a fetus with Down syndrome.
-If the tests are positive, women can have an abortion or continue the pregnancy, knowing that they will deliver a child with Down syndrome. The extra chromosome 21 carried in all cells of individuals with Down syndrome causes heart defects, altered facial features, and mental retardation.
Down syndrome life expectancy is 40 to 50 years old.
Research has shown that a chemical present in green tea was able to counteract the effects of the chromosome 21
If baby mice with Down syndrome-causing gene were fed green tea from birth, they did not develop the characteristics of Down syndrome (Einfeld & Brown, 2010). This discovery raises the possibility of a successful treatment for Down syndrome -For example, if an essential muscle protein is defective or missing during fetal development, muscle tissues develop abnormally. Several forms of muscular dystrophy are inherited in this way.
If a protein necessary for bone
formation is defective, short stature,
or dwarfism results. Teratogen: Any environmental agent that causes abnormal development of a fetus. Examples________________Effects Accutane (Acne Drug)___________________________________
spontaneous abortion, stillborn, malformation of the brain and heart
Growth deficiencies, mental retardation.
Fetal death, nervous system, and genital abnormalites
Masculinization of female, abnormalities of vagina and cervix, risk of vaginal cancer
Growth deficiencies, increased risk of sickness and death soon after birth -Originally tested as a drug for Epilepsy
-in 1957, Europe and other countries marked it as the "drug of choice" for pregnant women experiencing morning sickness
-Drug was tested on animals and thought to be extremely safe-However the drug did not act like a teratogen on animals
-Ultimately NOT SAFE on pregnant women.
-Drug interferes with normal development of the bones of the arms and legs of a fetus. Thalidomide DES -During 1950s and 1960s DES was prescribed to help prevent miscarriage.
-1970: identified as a teratogen
-Caused the daughters of women to have abnormal reproductive organs.
to have higher risk
of vaginal cancer. if that doesn't convince you drinking while
being pregnant isn't okay then hopefully this will (: .... Alcohol Fetal Alcohol Syndrome: birth defects and mental disabilities caused by the ingestion of alcohol by the mother during pregnancy Even moderate drinking can cause FAS
No amount at any time is safe.
drinking during the 1st trimester is worst!
As many as 1 in 10 newborns have been exposed to alcohol during pregnancy.
FAS effects the child for their ENTIRE life
and MORE! LET'S TAKE A CLOSER LOOK AT SOME TERATOGENS PREVENTING
HEREDITARY DISEASES Amniocentesis: a procedure in which amniotic fluid is removed from the uterus and fetal cells from the amniotic fluid are tested to determine whether genetic or anatomical defects exist in the fetus. Test performed around the 15th week of pregnancy
Parents can determine whether to continue to pregnancy or not depending on the results. Chorionic Villus Sampling (CVS): a prenatal procedure used to determine whether genetic or anatomical defects exist in a fetus; an alternative to amniocentesis Test can performed at 8th week of pregnancy Ultrasound Scanning: use of soundwaves to visualize the fetus in the womb. Genetic counseling Information to help prospective parents evaluate the risks of having or delivering a genetically handicapped child. Genetic Discrimination One of the consequences of genetic testing is the possibility of discrimination against the person Similar to discrimination based on race or gender
Companies don't want to hire people with serious health problems
Insurance companies want people that will pay more to them, then what they have to cover for them.
Genetic Information Nondiscriminatory Act (GINA) passed in 2008 protects the rights of those with hereditary diseases. Treating
Hereditary Diseases. True or False? If you believe it's
True, Raise your hand. Hereditary diseases can be cured FALSE!
Hereditary Diseases CANNOT be cured, but they CAN be treated! Drugs are used to lessen on the severity of symptoms
Protein is given to patient to help problem areas function a bit more normally. For example, proteins that are used to build muscle are given to patients with muscular dystrophy. In 2007, a man died from gene therapy-because of this it's been suspended in the U.S. until additional safety procedures could be implemented. Embryonic Stem Cells Cells derived from human fertilized eggs and grown in laboratory dishes; stem cells have the capacity to differentiate to many different tissues and organs. Using embryonic stem cells is a controversial topic on whether it's ethical or not today in the united states. We're Finished Thanks for listening! (: Hereditary Diseases in South Africa
It is estimated that in South Africa, 1 in every 40 babies has a birth defect
Over 150,000 children born annually are affected by a significant genetic defect by the age of five, requiring medical and supporting interventions.
Some of the genetic birth defects include Down syndrome, neural tube defects, fetal alcohol syndrome, albinism, cleft-lip/palate, club feet (talipes equinovarus), congenital infections such as rubella (German measles), and genetic deafness, blindness, physical handicap and mental retardation.
Genetically triggered high cholesterol occurs in one of 75 people in South Africa
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most prevalent inherited muscle disorder in South Africa About 125 affected boys are born every year.
The condition is inherited as an X- linked recessive disorder and only males are clinically affected, although the genetic defect is transmitted in families by asymptomatic carrier females Clinical features include onset in early childhood, progressive muscle weakness and calf pseudohypertrophy. Death usually occurs in the late teens or early 20s as a result of cardiopul-monary complications.
Unfortunately, there is no effective therapy. Italy Thalassemias is a genetic disorder that involves the decreased and defective production of hemoglobin, “a molecule found inside the red blood cells that transport oxygen throughout the body” it only affects people of Italian or greek descent.
Aims is a permanent neonatal diabetes that affects 1 in 300,000 - 400,000 live births in Italians. It is only possible to find the genetic disorder in 60% of people.
(LRD) limb reduction defects- it happens in 4.8 out of every 10,000 italians. Of all cases 64% were upper limbs.
arrhythmogenic right ventricular dysplasia-abnormal heart rhythems that cause death by heart attacks in people younger than 30. It is especially prevalent in communities in northeast Italy.
Pof, pathogenesis of premature ovarian failure is big in Italy 4-5 percent of women get this dieses. France France has the lowest rate of birth defects in the world, with a record of 39.7 (40) out of every 1,000 babies.
As more women come begin to enter the work force the rate is increasing.
29 percent of women in France are exposed to solvents (which can act as teratogens), because of there job. Jobs include cleaners, nurses, nurse aides, hairdressers and chemists/biologists.
These french women were 12 times more likely to give birth to a baby with a cleft lip
Only 4 out of every 1,000 babies will die before the age of 5
France homes approximately 76,000 individuals with down syndrome while the U.S. homes approximately 367,000 individuals.
The amount of liters of alcohol the french drink has dropped significantly which is a factor as to why they birth healthier children.
Men (15+) consumed 25 liters, Women (15+) 20 Liters in 1961
Men (15+) less than 15, Women (15+) less than 10 in 2006
France practices more gene therapy tests through The European Society of Gene and Cell Therapy (ESGCT)