Sollars - Human Genetics

Question 1

Individualized Medicine

Answer 1

Treating patient based upon biochemistry and genetic factors. “Tailored” medicine

Question 2

Pharmacogenomics

Answer 2

Study of the role of inherited and acquired genetic variation in drug response

Question 3

Cytogenetics

Answer 3

Study of chromosome structure and identification of microscopically visible abnormalities. Examination of the ordered array of chromosome or karyotype

Question 4

Molecular Genetics

Answer 4

Study of structure and function of genes, includes gene mapping and recombinant DNA based tech

Question 5

Biochemical Genetics

Answer 5

How genetic defects disrupt normal metabolism/cell control–need this to design treatment

Question 6

Population Genetics

Answer 6

Study of how allele frequencies present in a population.

Question 7

Clinical Genetics

Answer 7

Diagnosis/detection of inherited disorders; treatment/management; risk assessment; genetic counseling; and pharmacogenomics

Question 8

Pharmacogenomics

Answer 8

Study of the role of inherited ad acquired genetics variation in drug response

Question 9

Law of Segregation (1st Law)

Answer 9

Each individual possesses two genes for a particular characteristic. Only one of these genes is transmitted to the offspring

Question 10

Which law deals with unaffected carriers of disease?

Answer 10

Law of Segregation

Question 11

Monohybrid cross

Answer 11

Mating cross designed to produce an individual that has parent contributions that are different for one trait

Question 12

What is the ratio of progreny in the F2 generation?

Answer 12

3:1

Question 13

What are characteristics that appear in the F2 generation?

Answer 13

Recessive

Question 14

Dominant

Answer 14

Forms of gene that fully manifest their effects on a trait when present in the heterozygous state

Question 15

Recessive

Answer 15

Forms of a gene whose effects on a trait are masked by dominant allelles

Question 16

Codominance

Answer 16

Alleles are codominant if each is expressing independently of the presence of the other

Ex: A/B alleles in blood typing

Question 17

Genotype vs Phenotype

Answer 17

Genotype: Genetic (allelic) composition of individual (Xx, etc)

Phenotype: Observable physical, biochemical, etc feature (color, height, etc)

Question 18

Law of Independent Assortment (2nd Law)

Answer 18

Members of different pairs of factors assort independently.

or..

Members of different pairs of alleles are assorted independently into gametes during gametogenesis, and that subsequent pairing of male and femail gametes is random.

Question 19

What is the molecular basis for the law of Independent Assortment?

Answer 19

Genes are present on independent chromosomes, and chromosomes undergo recombination along their length fairly frequently

Question 20

Epistasis

Answer 20

when one gene masks the expression of another

Ex. Blue eyes

Question 21

Linkage

Answer 21

greater association in inheritance of two or more nonallelic genes than is to be expected from independent assortment

Question 22

Genomic Imprinting

Answer 22

– degree of which a gene expresses itself depends upon parent transmitting

Question 23

Mitochondrial Inheritance

Answer 23

inheritance of a trait encoded in the mitochondrial genome

Question 24

Germline Mosaicism

Answer 24

when an individual is composed of two or more cell lines in their germ cell population, where these cell lines are of different genetic or chromosomal constitution

ex. Seen in schizophrenia

Question 25

Single Gene Defect

Answer 25

Stem from polymorphism or mutations in one gene; easy to recognize modes of inheritance

Examples: Cystic fibrosis, sickle cell, Marfan

Question 26

Chromosome Disorder

Answer 26

Defect is due not to a single mistake in genetic blueprint, but to an excess or deficiency of genes contained in whole chromosome or chromosome segments

Ex: Down’s, Patau

Question 27

Multifactorial Inheritance

Answer 27

Most common defect, can include environmental and genetic factors.

These can recur in families, but do not show any particular pedigree pattern

Question 28

What can be useful in determining if disorder is inherited?

Answer 28

Comprehensive family history

Medical literature

Twin studies/segregation analysis

Question 29

Congenital

Answer 29

Present at birth,

ex. Congenital AIDS

Question 30

Familial

Answer 30

Trait or disorder tends to cluster in families

Question 31

Sporadic

Answer 31

Indicates no evidence for vertical transmission or familial clustering exists

Question 32

Inherited vs Genetic

Answer 32

Inherited - vertical transmission (e.g. father to daught) of the disease

Genetic - a gene or chromosome is involved in the susceptibility to or cause of the disease