GENETICS AND INHERITANCE

Question 1

This involves the transmission of genetic material from parents to offspring, ensuring the continuity of genetic traits across generations

Answer 1

Inheritance

Question 2

This refers to an organism’s ability to survive and reproduce in its environment, thereby passing on its genes to the next generation

Answer 2

Biological fitness

Question 3

Study of genes and their transmission from one generation to the next

Answer 3

Genetics

Question 4

DNA sequences that contain instructions for building proteins

Answer 4

Genes

Question 5

They are located at specific
positions on chromosomes and occur in pairs, with one inherited from each parent.

Answer 5

Genes

Question 6

Represent the complete set of
genetic material present in an organism, encompassing all of its DNA, including both coding and non-coding regions.

Answer 6

Genomes

Question 7

Involve the comprehensive
examination of an individual’s genetic material to gather valuable information

Answer 7

Genome Wide Arrays (GWA)

Question 8

Information from the GWA

Answer 8

Ethnicity, possible illness, tolerance, deficiency

Question 9

Structures within the nucleus,
composed of DNA and protein

Answer 9

Chromosomes

Question 10

First 22 pairs of chromosomes

Answer 10

Autosomes

Question 11

Last 1 pair of chromosomes

Answer 11

Allosome

Question 12

The composite visual display of all of the chromosomes of an individual

Answer 12

Karyotype

Question 14

These are specific and alternative versions of the same gene pair, occupying the same locus on homologous chromosomes

Answer 14

Alleles

Question 15

Refer to chromosome pairs that are similar in size, shape, and banding patter, with one member of each pair inherited from each parent. While they resemble each other, they are not identical and may carry different alleles of particular genes

Answer 15

Homologous

Question 15

Two identical alleles at a particular locus

Answer 15

Homozygous

Question 16

Two different alleles at a particular locus

Answer 16

Heterozygous

Question 17

Masks or suppresses the expression of its complementary allele.
Always expressed, even if heterozygous.
Are not always more common than recessive one; sometimes they may be rare in a population

Answer 17

Dominant Allele

Question 18

Will not be expressed if paired with a dominant allele (heterozygous). Will only be expressed if individual is homozygous for the recessive allele

Answer 18

Recessive allele

Question 18

An individual’s complete set of alleles
→ The complete genetic material of an organism along with its
noncoding nucleic acid sequence
→ Determines the genetic makeup of an organism.
→ Consists of all the genes inherited from both parents.
→ Determines the potential range of phenotypic traits an organism can express.

Answer 18

Genotype

Question 19

→ Worked with pea plants in the 1850s in Austria
→ Did multiple genetic experiments to
develop basic rules of inheritance

Answer 19

Gregor Mendel

Question 20

→ Gametes carry only one allele of each gene
→ One is from dad and one is from mom
→ explains that during gamete
formation, alleles for each gene segregate, ensuring that each gamete carries only one allele for each gene.
→This process allows for genetic variation and ensures that offspring inherit a combination of alleles from both parents, contributing to genetic diversity.

Answer 20

Law of Segregation

Question 21

→ states that genes for different traits
are inherited independently of each other during gamete formation, as long as they are located on different chromosomes.
→ This principle holds true during meiosis, where genes for separate traits assort into gametes without regard to the inheritance of other genes. However, this law applies only if the genes in question are located on different chromosomes, allowing for the random assortment of alleles during gamete formation. This process allows for the independent distribution of alleles for different traits, resulting in a wide variety of genetic combinations in offspring.

Answer 21

Law of independent assortment

Question 22

→ a process during which
homologous chromosomes exchange genetic material, further increases genetic diversity by shuffling alleles between chromosomes.
→ Without this, each chromosome would contain genes inherited solely from either the mother or the father, resulting in less genetic variation among offspring.

Answer 22

Crossing over

Question 23

in the presence of a dominant allele, its corresponding trait will be expressed. This principle applies to genetic inheritance, where one allele may mask the expression of another allele.

Answer 23

Law of Dominance

Question 24

Dominant allele completely masks the recessive allele, resulting in the expression of the dominant trait

Answer 24

Complete dominance

Question 25

traits blend together, producing an intermediate phenotype

Answer 25

Incomplete dominance

Question 26

→ Both alleles are expressed independently, without blending, resulting in the simultaneous presence of both traits. → This allows for the expression of multiple traits without the dominance of one over the other.

Answer 26

Co-dominance

Question 27

→ “Many genes” → refers to the inheritance of traits that are determined by the interaction of multiple genes. These traits are not solely influenced by the genes inherited from one's parents but rather by the combined effects of many genes working together.

Answer 27

polygenic traits

Question 28

→ These are two genes that are closely situated on the same chromosome. They are physically adjacent, often overlapping, indicating that during genetic recombination processes such as crossing over, they are unlikely to separate. This suggests that certain alleles remain together even when crossing over occurs. → physically located on the same chromosome → May be inherited together → Maybe"shuffled"during crossing over during meiosis

Answer 28

Linked allele

Question 29

→ These refer to genetic traits or conditions that are specifically associated with the sex chromosomes, namely the X and Y chromosomes in humans. → These traits or conditions are influenced by the sex of the individual, as they are located on the sex chromosomes.

Answer 29

Sex-linked chromosome

Question 30

○ 23d pair of chromosomes ○ Not homologous ○ X and Y chromosomes carry different genes

Answer 30

Sex chromosome

Question 31

Have one X and one Y chromosome

Answer 31

Male

Question 32

Have two X chromosomes

Answer 32

Females

Question 33

→ The sex doesn’t matter. Both males and females are affected. → Refers to a pattern of inheritance where individuals must inherit two copies of the recessive allele to express the trait → This may skip generations, as carriers may not exhibit symptoms but can pass the allele to the offspring

Answer 33

Autosomal recessive

Question 34

→ occurs during cell division, particularly during meiosis, where chromosomes or chromatids fail to separate properly. → It is either Monosomy or Trisomy

Answer 34

Non-disjunction

Question 35

→ Trisomy21 → is one of the most prevalent chromosomal disorders. It is caused by the presence of an extra copy of chromosome 21, resulting in a total of 47 chromosomes instead of the typical 46. → Itisautosomal.Ithasdifferent symptoms: it may be mental, physical, and cognitive

Answer 35

Down syndrome (47, 21+)

Question 36

→ This is a genetic condition characterized by the presence of an extra X chromosome in males, resulting in a karyotype of 47, XXY. → It is a sex-linked condition occurring on chromosome 23. It affects males, indicated by the presence of the Y chromosome. This syndrome impacts the endocrine system, which governs hormones, thus influencing physical, mental, and cognitive health. Individuals with this often experience significant hormonal imbalances, contributing to various health challenges. The symptoms often lean towards qualities that are more biologically feminine

Answer 36

Klinefelter's Syndrome (47, XXY)

Question 37

→ The sex doesn’t matter. Both males and females are affected. → Refers to a pattern of inheritance where the presence of a single copy of the dominant allele on one of the autosomal chromosomes is sufficient to express the trait. → It appears in every generation of an affected family and affected individuals.

Answer 37

Autosomal dominant

Question 38

→ is characterized by the presence of an extra Y chromosome in males, resulting in a karyotype of 47, XYY. While some symptoms may overlap with Klinefelter syndrome, such as hormonal imbalances, it is generally less severe. Both conditions involve abnormalities in chromosome 23, but their specific manifestations

Answer 38

Jacob Syndrome (47, XYY)

Question 39

→ Monosomy → This is sex-linked. The sex of this is female. → all or part of one X chromosome is absent → Affects the endocrine system severely

Answer 39

Turner syndrome (45, XO)

Question 40

→ Piece of a chromosome breaks off → We can easily detect this with karyotype.

Answer 40

Deletion

Question 41

→ Deletion of chromosome 5 → usually found in the crying of babies, is characterized by a distinct high-pitched cry resembling that of a cat. → severe developmental delay and cognitive deficits and distinctive facial abnormalities

Answer 41

Cri du chat syndrome

Question 42

→ Piece of chromosome breaks off and re-attaches to a different chromosome → Change of location, a process similar to crossing over but is intended to occur only during meiosis. If translocation occurs outside of meiosis, it can result in a genetic disorder.

Answer 42

Translocations

Question 43

Everyone is affected without skipping generations. This means that at least one individual in every generation carries or expresses the trait, even if not all members of the generation have it.

Answer 43

Dominant

Question 44

It may skip generations but can be carried and potentially expressed in future offspring.

Answer 44

Recessive

Question 45

People with PKU cannot convert the amino acid Phenylalanine to _____ due to a mutation in the gene that codes for PAH.

Answer 45

Tyrosine

Question 46

→ is a metabolic disease that is caused by a buildup of Phenylalanine in the body due to an enzyme deficiency, particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH).

Answer 46

Phenylketonuria (PKU)

Question 47

PKU is a metabolic disease that is caused by a buildup of ______ in the body due to an enzyme deficiency, particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH).

Answer 47

Phenylalanine

Question 48

Most commonly occurring in children, that results in progressive destruction of the nervous system caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).

Answer 48

Tay-sachs disease (TSD)

Question 49

TSD the absence of the enzyme ____. Without this enzyme, fatty substances accumulate excessively in the brain, particularly in neurons and nerve cells. This accumulation is progressive and rapid because our brains shouldn't have these fatty substances.

Answer 49

Hex-A

Question 50

→ This is caused by an inherited detect in a single gene (HTT). It is an autosomal dominant disorder, a person needs only one copy of the defective gene. → Isn't expressed until mid-life → Each child of an affected individual has a 50% chance of inheriting the lethal gene

Answer 50

Huntington's disease

Question 51

This means inherited on chromosome 1-22

Answer 51

Autosomal

Question 52

This means inherited on either X or Y chromosome.

Answer 52

Sex-linked

Question 53

PKU, Tay-Sachs, albinism

Answer 53

Autosomal recessive

Question 54

Huntington's Disease

Answer 54

Autosomal dominant

Question 55

- this allele is found on only the X chromosome: can be in males or females) ★ e.g., color-blindness, hemophilia

Answer 55

X-linked recessive

Question 56

- this allele is found on X chromosomes; can be in males or females) ★ e.g., hypophosphatemia

Answer 56

X-linked dominant

Question 57

The allele is found on the Y chromosome and can only be in males.

Answer 57

Y-linked

Question 58

→ Trait is rare in the pedigree → Trait often skips generations (hidden in heterozygous carriers) → Trait affects males and females equally

Answer 58

Autosomal recessive pedigree

Question 59

→ Trait is rare in pedigree. → Trait skips generations → Males are more often affected than females → Females are carriers

Answer 59

X-linked recessive pedigrees

Question 60

→ Trait is common in pedigree → passed to ALL of their daughters → Males and females are equally likely to be affected → X-linked dominant diseases are extremely unusual ★ ex. incontinentia pigmenti (skin lesions)

Answer 60

X-linked dominant pedigrees

Question 61

→ Traits on the Y chromosomeare only found in males, never in females. → The father's traits are passed to XY on all sons. → Dominance is irrelevant: there is only 1 copy of each Y-linked gene

Answer 61

Y-linked gene