GENETIC DISORDER

AND GENETIC COUNSELLING

Ruthanne Lorraine T. Datul BML2A

 BRIEF HISTORY

• First, there was Gregor Mendel, a monk who studied inherited characteristics.
This was followed by Francis Crick and James Watson who unraveled the
DNA molecule. This has led us to understanding the human genome sequence.
In 1866, Gregor Mendel published the results of his investigations of the
inheritance of “factors” in pea plants.
• Rosalind Franklin – 1950’s
- Maurice Wilkins (1916), Rosalind Franklin (1920-1957), Francis H. C.
Crick (1916) of Britain and James Watson (1928) of the US Discover
chemical structure of DNA, starting a new branch of science – molecular
biology.
• Watson and Crick – made a model of the DNA molecule and proved that genes
determine heredity.
 BRIEF HISTORY

• Arthur Konberg – 1957

- Arthur Konberg (1918) of the US produced DNA in a test tube.
Genetic code – the Genetic code was discovered: so that the scientists are now able to
predict characteristics by studying DNA. This leads to genetic counseling.
• Barbara McClintock – 1983
- Barbara McClintock (1902-1992) of the US was awarded the Nobel Price for her
discovery that genes are able to change position on chromosomes.
DNA Fingerprinting – the late 1980’s
- An international team of scientists began the project to map the human genome.
- The first crime conviction based on DNA fingerprinting in a Portland Oregon.
 BRIEF HISTORY

• Gene Therapy – 1990

- Gene therapy was used on patients for the first time.
• Dr. Kary Mullis – 1993
- Discovered the PCR (polymerase chain reaction) procedure, for which he was awarded the
Nobel price
• DNA Testing – 1995
- DNA testing in forensics cases gains fame in the O.J. Simpson trial.
• Cloning Begins – 1997
- Dolly the sheep the first adult animal clone.
 INTRODUCTION

• Heredity refers to the passing on of characteristics

• DNA is deoxyribonucleic acid, our hereditary material
• DNA is made up of sugar, phosphate, and 4 nitrogenous bases: Adenine, Thymine, Guanine and Cytosine
• Chromosomes are DNA molecules curled around histone proteins
• Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is
made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA
contains the specific instructions that make each type of living creature unique.
• A gene is a sequence of DNA that contains instructions to make proteins
• Genes accomplish important tasks, and if there is a malfunction while DNA replication, a disorder will occur in
the baby developing in the womb.
• Humans have 23 pairs of chromosomes
 WHAT IS GENETIC DISORDER?

• Genetic disorder is a disease caused by a changed or gene

mutation, in an individual’s DNA sequence.
• These mutation can be due to an error in DNA replication or
due to environmental factors, such as cigarettes some and
exposure to radiation, which causes changes in the DNA.
• Depending on where these mutations occur, they can have little
nor effect, or may profoundly alter the biology of cells in our
body, resulting in a genetic disorder.
 DOWN’S SYNDROME

• A disorder caused by an extra chromosome 21 (trisomy 21)

• Causes severe mental retardation
• Prone to develop Leukemia and Alzheimer's disease
• Almost half of DS pts will have a congenital heart defect
• Many babies with DS are rejected by the body and are therefore miscarried
 KLINFELTERS SYNDROME

• Disorder occurring due to nondisjunction of the X chromosome.

• Infertility results from absent of an sperm.
 TURNERS SYNDROME

• Turner syndrome is associated with underdeveloped ovaries, short stature, webbed, and is only in women.
• Mental retardation typically not evident.
 TAY SACH’S DISEASE

• Monogenic, autosomal recessive caused by a genetic mutation on the HEXA gene located on the 15 th chromosome.
• Harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of
those cells
 DUCHENE MUSCULAR DYSTROPHY

• Is an inherited muscular disease. Risks include a family history of DMD, it occurs in 1 out of 3600 male infants.
• Females are usually carriers.
• Progressive weakening of muscle control ( due to lack of protein) , pseudohypertrophy, fibrotic tissue development and
loss of coordination
 HEMOPHILIA

• Is a hereditary genetic condition that affects the body’s ability to clot

• Caused by the absence of one or more proteins necessary for normal blood clotting.
• The severity of hemophilia is related to the amount of the clotting factor in the blood.
 HUNTINGTON’S

• An inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control.
• Symptoms - uncoordinated, jerky body movements and a decline in some mental abilities; deterioration of nervous
system
• The disease is also known as Huntington's chorea. Chorea means "dance-like movements"
 .
PHENYLKETONURIA OR PKU
• Autosomal recessive disorder
• Caused by a deficiency of an enzyme which is necessary for proper metabolism of an amino acid called phenylalanine.
• Requires elimination of phenylalanine from diet
 CYSTIC FIBROSIS

• An Autosomal recessive disorder

• Excessive mucus production causes lung infections, and affects other organs; poor nutrient absorption; chronic
bronchitis; foul stools; bacterial infections
 GENETIC TESTING AND GENETIC COUNSELING

• I Prenatal screening / testing

• II Newborn screening
• III Carrier and other adult testing
• IV Genetic Counseling
 PRENATAL SCREENING/TESTING

• 1. Ultrasound
• 2. Maternal serum alpha-fetoprotein or multiple marker screening
• 3. Amniocentesis
• 4. Chorionic villus sampling (cvs)
• 5. Nuchal translucency
 ULTRA SOUND

• Obstetric sonography (ultrasonography) is the application of medical ultrasonography to obstetrics, in which sonography
is used to visualize the embryo or fetus in its mother's uterus (womb).
• The procedure is often a standard part of prenatal care, as it yields a variety of information regarding the health of the
mother and of the fetus, as well as regarding the progress of the pregnancy.
 MATERNAL SERUM ALPHA-FETOPROTEIN

• MSAFP is a screening test that examines the level of alpha-fetoprotein in the mother's blood during pregnancy.
• The AFP test is measures high and low levels of alpha-fetoprotein. The results are combined with the mother’s age and
ethnicity in order to assess probabilities of potential genetic disorders.  
• High levels of AFP suggests neural tube defect such as spina bifida or anencephaly, defects with the esophagus or a
failure of your baby's abdomen to close.
• Low levels of AFP and abnormal levels of hCG and estriol may indicate that the developing baby has Trisomy 21( Down
syndrome), Trisomy 18 (Edwards Syndrome) or another type of chromosome abnormality.
 AMNIOCENTESIS

• Prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which
contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is
examined for genetic abnormalities.
• Serious complications can result in miscarriage, preterm labor and delivery, respiratory distress, postural deformities,
fetal trauma and alloimmunization (rhesus disease).
 CHORIONIC VILLUS SAMPLING (CVS)

• It entails getting a sample of the chorionic villus (placental tissue) and testing it.
• CVS can be carried out 10-13 weeks after the last period, earlier than amniocentesis
• CVS carries a higher risk of harming the fetus than amniocentesis
 NUCHAL TRANSLUCENCY

• Nuchal Translucency Scan or Scan/Procedure – it is part of the ultrasound process where it is use to detect the
chromosomal abnormalities in a fetus, and it maybe performed 12 weeks during pregnancy.
 NEWBORN SCREENING

• Purpose to find newborns who will benefit from early

diagnosis and treatment
• historically, the criteria for inclusion in a newborn
screening program:
1. Preventable damage
2. Frequency in population
3. Appropriate test
4. Needed to recognize disorder
 GENETIC COUNSELLING

• possible problem detected during prenatal testing

• birth of an affected child
• family diagnosis/history of genetic disorder
• repeated unexplained loss of pregnancy
THANK YOU, YOU ARE LOVED!!
 W H AT C A U SE S A G EN E TI C D I S O R D ER ?

• A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the
normal sequence. Can be caused by a mutation in one gene (monogenic disorder), by a mutations in multiple
genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by
damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry
genes.)
 C A N G EN ETI C D I S O R D E R S C A N BE C U R E D ?

• Many genetic disorders result from gene changes that are present in essentially
every cell in the body. As a result these disorders often affect many body
systems, and most cannot be cured. However, approaches may be available to
treat or manage some of the associated signs and symptoms.
 W H O I S AT R I S K F O R G E N ET I C D I SO RD ERS ?

• One parent has a chromosomal abnormality. Advance maternal age (35 or

older) Advanced paternal age (40 or older) Multiple miscarriage or prior
stillbirth.
 C A N Y O U P R EV E N T G EN E T I C D I S O R D E RS ?

• Genetic disorders are not curable but can only be prevented. Genetic disorder is
one of several cause of infant mortality. In fact, 20% of the infant mortality in
developed countries is due to genetic disorders. Genes are very powerful when
it comes to birth of a child.