Genetics

Question 1

different versions (a variant of the similar DNA sequence) of a gene that occupy the same locus

Answer 1

alleles

Question 2

individuals with identical alleles for a given locus

Answer 2

homozygous

Question 3

individual with different alleles for a particular locus

Answer 3

heterozygous

Question 4

the physical manifestation of the gene,

depends on a person’s gene, gene-gene, and gene-environment interactions

Answer 4

phenotype

Question 5

set of genes of an organism

Answer 5

genotype

Question 6

unit of inheritance

Answer 6

gene

Question 7

carrier of genes

Answer 7

chromosome

Question 8

specific location of a gene (DNA sequence) on a chromosome

Answer 8

locus

Question 9

a gene in a pair specifies the phenotype instead of the other gene

Answer 9

dominant trait

Question 10

traits or disease manifest only when both copies of the gene are the same

Answer 10

recessive trait

Question 11

dictated by the alleles

Answer 11

trait

Question 12

Normal karyotype for females

Answer 12

46,XX

Question 13

Normal karyotype for males

Answer 13

46,XY

Question 14

mga under ng

Autosomal Dominant Inheritance

Answer 14

Familial Hypercholesterolemia
Marfan Syndrome
Ehlers-Danlos Syndrome
Neurofibromatosis Type 1 
(Von Recklinghausen Disease)

Question 15

mga under ng

Autosomal Recessive Trait

Answer 15

Classic Phenylketonuria
Maple Syrup Urine (MSU) Disease
Galactosemia
Congenital Adrenal Hyperplasia

Question 16

mga under ng

X-LINKED DOMINANT INHERITANCE

Answer 16

Focal Dermal Hypoplasia (Goltz syndrome)

Rett syndrome

Question 17

mga under ng

X-LINKED RECESSIVE INHERITANCE

Answer 17

G6PD Deficiency
Hemophilia
Duchenne Muscular Dystrophy (DMD)

Question 18

Connective tissue disease 1:5000
Mutation in fibrillin-1 (FBN1) gene on chromosome 15 q
(tall stature, unusually long slender limbs, scoliosis, chest wall deformities, arachnodactyly, hyperextensibility of the joints)

Answer 18

Marfan syndrome

Question 19

INCREASED levels of cholesterol

Management: Statins (HMG CoA reductase inhibitor)

Answer 19

Familial Hypercholesterolemia

Question 20

Marfan syndrome gene mutation

Answer 20

Mutation in fibrillin-1 (FBN1) gene on chromosome 15 q

Question 21

Defect in collagen structure or synthesis ➔ abnormal production and secretion of collagen

Answer 21

Ehlers-Danlos Syndrome

Question 22

Neurofibromatosis Type 1
 (Von Recklinghausen Disease)

defect in

Answer 22

tumor suppressor gene NF-1 on chromosome 17

Question 23

multiple neurofibromas, café-au-lait spots, Lisch nodules (benign growth in the iris), optic pathway gliomas, learning disabilities, short stature, seizures, hypertension, malignancies

Answer 23

Neurofibromatosis Type 1
 (Von Recklinghausen Disease)

Question 24

must use soya formula

Answer 24

Galactosemia

Question 25

6 diseses covered by screening tests

Answer 25

``` G6PD Congenital hypothyroidism Classic Phenylketonuria Maple Syrup Urine (MSU) Disease Galactosemia Congenital Adrenal Hyperplasia ``` last 4 is Autosomal Recessive Trait

Question 26

Deficiency of liver enzyme phenylalanine hydroxylase

Answer 26

Classic Phenylketonuria

Question 27

diet for Classic Phenylketonuria and Maple Syrup Urine (MSU) Disease

Answer 27

low protein

Question 28

Accumulation of branched chain amino acids leucine, isoleucine and valine

Answer 28

Maple Syrup Urine (MSU) Disease

Question 29

Deficiency of any of the enzymes required for the synthesis of aldosterone and cortisol: 21hydroxylase, 11βhydroxylase, 3βhydroxysteroid and 17αhydroxylase, congenital lipoid hyperplasia, P450 oxidoreductase deficiency

Answer 29

Congenital Adrenal Hyperplasia

Question 30

avoidance of fava beans

Answer 30

G6PD

Question 31

Trisomy 21

Answer 31

Down’s syndrome

Question 32

Trisomy 13

Answer 32

Patau Syndrome

Question 33

Trisomy 18

Answer 33

Edward Syndrome

Question 34

XXY

Answer 34

Klinefelter Syndrome

Question 35

genetic testing for DNA

Answer 35

Southern blot

Question 36

genetic testing for RNA

Answer 36

Northern blot

Question 37

genetic testing for dystrophy

Answer 37

Western blot

Question 38

rate-limiting enzyme in hexose monophosphate shunt

Answer 38

G6PD

Question 39

Tympanitic abdomen

Answer 39

Colic

Question 40

lack of clotting factor VIII

Answer 40

Hemophilia A

Question 41

lack of clotting factor IX

Answer 41

Hemophilia B

Question 42

Hallmark: hemarthrosis (ankles); prolonged bleeding episodes, easy bruisability, IM hematoma

Answer 42

Hemophilia

Question 43

"runs in the family"

Answer 43

multifactorial

Question 44

most common inborn error of metabolism

Answer 44

MSU

Question 45

a condition with the deficiency of an enzyme that is required in the synthesis of cortisol and aldosterone: females would manifest with ambiguous genitalia, salt-wasting type adrenal crisis

Answer 45

CAH

Question 46

puppet-like gait

Answer 46

Angelman syndrome

Question 47

type of stem cell that differentiate into embryonic and extraembryonic

Answer 47

totipotent

Question 48

bone marrow stem cell is example of

Answer 48

hematopoietic

Question 49

most common chromosomal autosomal abnormality

Answer 49

Trisomy 21/ Down’s syndrome

Question 50

examination of abdomen

Answer 50

inspection - palpation - percussion - auscultation