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These flashcards cover key concepts related to hereditary and environmental influences on development as discussed in the lecture notes.
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What are the primary components of DNA that contribute to gene structure?
The primary components of DNA include nucleotides, which consist of a phosphate group, a sugar (deoxyribose), and a nitrogenous base.
What is the role of chromosomes in human cells?
Chromosomes carry genes that contain the instructions for the development and functioning of an organism.
What are chromosomal abnormalities?
Chromosomal abnormalities are changes in the normal structure or number of chromosomes which can lead to developmental disorders.
What is Trisomy?
Trisomy is a type of chromosomal abnormality where there are three copies of a chromosome instead of the usual two.
What are some examples of multifactorial birth defects?
Examples of multifactorial birth defects include heart defects, neural tube defects, cleft lip/cleft palate, and pyloric stenosis.
What are teratogens?
Teratogens are environmental agents that increase the risk of birth defects.
List some environmental factors that can interfere with prenatal development.
Environmental factors include maternal infections, drug use, pollutants, chemical exposure, ionizing radiation, maternal hyperthermia, and maternal disorders.
How can the effects of environmental factors on prenatal development be reduced?
Effects can be reduced by avoiding exposure to known teratogens and maintaining a healthy maternal environment pre- and post-conception.
What are the primary components of DNA that contribute to gene structure?
The primary components of DNA include nucleotides, which consist of a phosphate group, a sugar (deoxyribose), and a nitrogenous base.
What is the role of chromosomes in human cells?
Chromosomes carry genes that contain the instructions for the development and functioning of an organism.
What are chromosomal abnormalities?
Chromosomal abnormalities are changes in the normal structure or number of chromosomes which can lead to developmental disorders.
What is Trisomy?
Trisomy is a type of chromosomal abnormality where there are three copies of a chromosome instead of the usual two.
What are some examples of multifactorial birth defects?
Examples of multifactorial birth defects include heart defects, neural tube defects, cleft lip/cleft palate, and pyloric stenosis.
What are teratogens?
Teratogens are environmental agents that increase the risk of birth defects.
List some environmental factors that can interfere with prenatal development.
Environmental factors include maternal infections, drug use, pollutants, chemical exposure, ionizing radiation, maternal hyperthermia, and maternal disorders.
How can the effects of environmental factors on prenatal development be reduced?
Effects can be reduced by avoiding exposure to known teratogens and maintaining a healthy maternal environment pre- and post-conception.
What is a gene?
A gene is a specific sequence of nucleotides in DNA that acts as the basic unit of heredity by directing protein synthesis.
Name the four nitrogenous bases found in DNA.
The four nitrogenous bases are Adenine (A), Thymine (T), Guanine (G), and Cytosine (C).
Which chromosomal abnormality is associated with Down syndrome?
Down syndrome is caused by Trisomy 21, where an individual has three copies of chromosome 21.
What does the acronym TORCH represent?
TORCH stands for Toxoplasmosis, Other (syphilis, varicella-zoster, etc.), Rubella, Cytomegalovirus, and Herpes simplex virus.
What is Fetal Alcohol Syndrome (FAS)?
Fetal Alcohol Syndrome is a condition characterized by physical and mental defects that can develop in a fetus when the mother drinks alcohol during pregnancy.
Which B-vitamin is essential for preventing neural tube defects?
Folic acid (Vitamin\ B_{9}) is crucial for the proper development of the neural tube during early pregnancy.
What is the physical structure of the DNA molecule commonly referred to as?
DNA is structured as a double helix, which resembles a twisted ladder.
How are nitrogenous bases paired together in a DNA molecule?
Adenine (A) pairs with Thymine (T), and Guanine (G) pairs with Cytosine (C).
What is Monosomy?
Monosomy is a chromosomal abnormality where an individual is missing one chromosome from a pair, resulting in a total of 45 chromosomes.
Which chromosomal condition is characterized by the presence of an extra X chromosome in males (47,XXY)?
Klinefelter syndrome is the condition where males have an extra X chromosome.
What is Turner syndrome?
Turner syndrome is a condition in females characterized by the complete or partial absence of one X chromosome (45,X).
What is the difference between genotype and phenotype?
Genotype refers to the genetic makeup of an organism, while phenotype refers to the observable physical or biochemical characteristics.
What is a point mutation?
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted, or deleted from a DNA or RNA sequence.
Identify a specific medication used for acne that is a known potent teratogen.
Isotretinoin (commonly known as Accutane) is a potent teratogen that can cause severe birth defects if taken during pregnancy.
What is the function of hydrogen bonds in the DNA structure?
Hydrogen bonds hold the complementary nitrogenous base pairs together between the two strands of the DNA double helix.
What are single-gene disorders?
Single-gene disorders are caused by a mutation in one specific gene and follow predictable inheritance patterns, such as autosomal dominant or recessive.