Human Genetics

Question 1

Determine the possible genotypes and phenotypes of the individuals

Answer 1

Pedigree analysis

Question 2

Affected individual whom the pedigree is discussed

Answer 2

Proband

Question 3

Common patterns of inheritance

Answer 3

Autosomal dominance
Autosomal recessive
Sex-linked dominance
Sex-linked recessive
Sex-influenced

Question 4

The trait never skips a generation

Answer 4

Autosomal dominance

Question 5

2 affected individual produced affected offspring

Answer 5

Autosomal recessive

Question 6

Affected male with unaffected wife transmit the trait to daughter only

Answer 6

Sex-linked dominance

Question 7

Affected female transmit the trait to son, daughter serves as carrier

Answer 7

Sex-linked recessive

Question 8

Gene exhibits high penetrance or expressivity on one sex

Answer 8

Sex-influenced

Question 9

One mutated copy of the gene in each cell is sufficient for a person to be affected

Give a disease example

Answer 9

Autosomal dominance

-Huntington Disease and Marfan Syndrome

Question 10

Both copies of gene mutations

Give example

Answer 10

Autosomal recessive

Cystic fibrosis
Sickle cell disease

Question 11

Caused by mutations in genes on the X chromosome

Give example

Answer 11

X-linked dominant

Fragile X syndrome

Question 12

Mutations in X-chromosome of male

Give example

Answer 12

X-linked recessive

Hemophilia

Question 13

Mutated gene that causes disorder in Y chromosome of males cell

Give example

Answer 13

Y-linked

Y chromosome infertility

Question 14

Two different versions of a gene are expressed and each version makes a slightly different protein

Answer 14

Co-dominant

Question 15

Also known as maternal inheritance

Answer 15

Mitochondrial inheritance

Question 16

British physician that Described the Down Syndrome

Answer 16

J. Langdon Down

Question 17

degenerative disorder of the human central nervous system in the progressive impairment of the memory

Answer 17

Alzheimer’s Disease

Question 18

Describes Edwards Syndrome

Answer 18

John H. Edwards

Question 19

Patau Syndrome is described by

Answer 19

Klaus Patau

Question 20

Disorders associated in Sex Chromosome Aneuploidy or change in the number of sex chromosome

Answer 20

Klinefelter’s Syndrome
Turner’s Syndrome
Triple X syndrome
Double Y Syndrome
Hermaphroditism

Question 21

Human disorders due to changes in chromosome structure

Answer 21

Cri-du-chat Syndrome
Muscular dystrophy
Robertsonian translocation
Philadelphia syndrome

Question 22

A condition characterized by accumulation of galactose in blood

Answer 22

Galactosemia

Question 23

Homozygous recessive individuals are unable to metabolize galactose because of deficiency in

Answer 23

Gal-1- Puridyl transferase enzyme

Question 24

An inborn error of metabolism that renders an individual unable to hydroxylate phenylalanine to tyrosine

Answer 24

Phenylketonuria

Question 25

Hereditary abnormality that is due to errors on melanin synthesis

Answer 25

Albinism

Question 26

Disorders that can be detected in new born screening

Answer 26

Congenital Hypothyroidism Galactosemia Phenylketonuria Glucose-6 Phosphate Dehydrogenase deficiency

Question 27

Caused by mutations of a gene called CFTR

Answer 27

Cystic Fibrosis

Question 28

Meaning of CFTR

Answer 28

Cystic Fibrosis transmembrane conductance regulator

Question 29

A complex of protein that work together to strengthen muscle fibers and protect them from injury as muscle contract and relax

Answer 29

Dystrophin

Question 30

Group of disorders that affect hemoglobin

Answer 30

Sickle cell disease

Question 31

Loss of ability to organize thoughts and perception

Answer 31

Schizophrenia

Question 32

Perceives self as obese and starves intentionally

Answer 32

Anorexia nervosa

Question 33

Eating huge amount to be followed by vigorous vomiting in order to maintain weight

Answer 33

Bulimia

Question 34

Males see themselves as too small and takes amino acids supplements to have masculine physique

Answer 34

Muscle dysmorphia or bigorexia

Question 35

Compulsive behavior of seeking and taking drug

Answer 35

Drug addiction

Question 36

Due to deficiency of neurotransmitters serotonin and norepinephrine

Answer 36

Major depressive disorders

Question 37

Application of molecular genetics

Answer 37

Genetic Engineering

Question 38

Requirements for genetic engineering

Answer 38

Restriction of endonuclease DNA ligase Vehicles for cloning Functional host cell A method for selection of recipient cell and their multiplication Recipient cell

Question 39

Joining together of DNA molecules from two different species that are interested into host organism

Answer 39

Recombinant DNA technology

Question 40

General name for a piece of DNA that has been created by the combination of at least two strands

Answer 40

rDNA

Question 41

Steps of genetic recombinant technology

Answer 41

Isolation of genetic material Restriction enzyme digestion Amplification using pcr Ligation of DNA molecules Insertion of Recombinant DNA in the host Isolation of Recombinant Cells

Question 42

Act as molecular scissors that cut DNA at specific location

Answer 42

Restriction enzymes

Question 43

Reveals the progress of the restriction enzyme digestion

Answer 43

Agarose Gel Electrophoresis

Question 44

A method of making multiple copies of a DNA sequence using the enzyme DNA polymerase vitro

Answer 44

Polymerase Chain Reaction

Question 45

A process that the recombinant DNA is introduced into a recipient host cell

Answer 45

Transformation

Question 46

RFLP

Answer 46

Restriction Fragment Length Polymorphism

Question 47

VNTR

Answer 47

Variable Number of Tandem Repeats

Question 48

DNA fragments that can distinguished from one another due to their differences in nucleotide sequences

Answer 48

DNA markers

Question 49

Used to leached metals from Fe ore Used to process waste H2S gas produced by petroleum refineries

Answer 49

Iron-oxidizing bacteria

Question 50

Used to leached metals from Fe ore Used to process waste H2S gas produced by petroleum refineries

Answer 50

Iron-oxidizing bacteria

Question 51

Bacteria genrtically engineered to glow in the dark Can be used as living biosensor

Answer 51

Bacterial biosensors

Question 52

Hormone for glucose intake and a treatment for diabetes

Answer 52

Insulin

Question 53

Dissolves blood clot and treatment for heart attack victoms

Answer 53

Tissue plasminogen avtivator

Question 54

Blood clotting factor and a treatment for certain types of hemophilia patients

Answer 54

Factor VIII

Question 55

Lower blood pressure treatment for hypertension

Answer 55

Renin inhibitor