gentic disorders 2

Question 1

When there are food/molecule outside of the cell

Answer 1

heterophagy

Question 2

Dead organelle inside the organ has to be removed by_______

Answer 2

autophagy

Question 3

catabolism of the substrate of the missing enzyme remains incomplete, leading to the accumulation of the partially degraded insoluble metabolite within the lysosomes.

Answer 3

Primary accumulation

Question 4

Impaired autophagy gives rise to ________

Answer 4

secondary accumulation

-generation of free radicals and apoptosis

Question 5

Type 2- pompe disease

Answer 5

Glycogenesis

-glycogen

Question 6

GM1 ganglioside betagalactosidase

Answer 6

Sphingolipidoses

-GM1

Question 7

Sphingomyelinase

Answer 7

Sulfate doses ex/ niemann pick disease

Question 8

Alpha-liduronidase

Answer 8

Mucopolysacharidoses

-dermatan sulfate, heparin sulfate

Question 9

Enzymes needed for the formation of mannose-6-phosphate recognition marker

Answer 9

Mucopolidoses

-mucopolysaccharides

Question 10

Alpha fucosidase

Answer 10

Fucosidosis

Question 11

is based on the premise that if the substrate to be degraded by the lysosomal enzymes can be reduced, the residual enzyme activity may be sufficient to catabolize it and prevent accumulation

Answer 11

subtrate reduction therapy

Question 12

competitive inhibitor of the enzyme can bind to the mutant enzyme and act as the folding template that assists proper folding of the enzyme and thus prevents its degradation

Answer 12

molecular chaperone therapy

Question 13

Results from mutations in the α-subunit locus on
chromosome 15 that cause a severe deficiency of
Hexosaminidase A

Answer 13

Tay-sachs disease

Question 14

molecule composed of glycosphingolipid with one or more sialic acids linked on the sugar chain

Answer 14

gangliosides

Question 15

involved in cell-cell recognition and adhesion and signal transduction

Answer 15

gangliosides

Question 16

gangliosides are degraded to _________, catalyzed by a set of highly specific lysosomal enzyme (hexoseaminidase A)

Answer 16

ceramides

Question 17

lysosomal accumulation of sphingomyelin due to inherited deficiency of sphingomyelinase

Answer 17

Niemann-pick disease types A and B

Question 18

- severe infantile form with extensive 
neurologic involvement, marked visceral 
accumulations of sphingomyelin, and 
progressive wasting and early death within the 
first 3 years of life.

Answer 18

Type A

Question 19

organomegaly but no CNS involvement. Patients usually survive into
adulthood.

Answer 19

Type B

Question 20

Symptoms: 
o Enlarged liver and spleen, swelling in abdomen 
by around 3 months, which may progress with 
age 
o Feeding issues, failure to thrive 
o Frequent respiratory functions 
o Red spot in the eye 
o Irritability

Answer 20

Niemann-pick disease types A and B

Question 21

NPC 1

Answer 21

membrane bound

Question 22

NPC2

Answer 22

Soluble

Question 23

mutations in gene encoding glucocerebrosidase (accumulates primarily in phagocytes)

Answer 23

Gaucher disease

-activation of macrophages

Question 24

o Most common, accounting for 99% of cases
o Does not involve the brain
o Splenic and skeletal involvements dominate
o It is principally found in Jews of European
stock

Answer 24

type 1 or chronic non-neuropathic form

Question 25

o No predilection for Jews o Progressive CNS involvement leading to death at an early age.

Answer 25

Type 2 or Acute Neuronopathic Gaucher | disease

Question 26

o Systemic involvement of Type I but have progressive CNS disease that usually begins in adolescence or early adulthood o Gaucher cells – distended phagocytic cells. o Found in spleen, liver, bone marrow, lymph, nodes, tonsils, thymus, and Peyer’s patches (tissues with macrophages) o With fibrillary type of cytoplasm (like crumpled tissue paper)

Answer 26

Type 3 or Chronic Neuronopathic Form

Question 27

The glycosaminoglycans that accumulate in MPSs | are

Answer 27

o Dermatan sulphate o Heparan sulphate o Keratan sulphate o Chondroitin sulphate

Question 28

hunter syndrome

Answer 28

x-linked

Question 29

▪ Deficiency of α-I-iduronidase ▪ Life expectancy of children with MPS I-H is 6-10 years, and death is often a result of cardiac complications

Answer 29

Mucopolysaccaridoses (MPS I-H) Hurler Syndrome -Accumulation of dermatan and heparan sulphate is seen in mononuclear phagocytes, fibroblasts and within endothelium and smooth muscle cells of the vascular wall.

Question 30

Glucose-6-phosphatase | deficiency

Answer 30

Glycogenosis Type I

Question 31

- Acid maltase deficiency | (AMD); Pompe disease

Answer 31

Glycogenosis Type II

Question 32

Liver phosphorylase | deficiency

Answer 32

Glycogenosis Type VI

Question 33

Brancher enzyme | deficiency; Andersen disease

Answer 33

Glycogenosis Type IV

Question 34

Muscle phosphorylase | deficiency; McArdle disease

Answer 34

Glycogenosis Type V

Question 35

- Debrancher enzyme | deficiency; Cori – Forbes disease

Answer 35

Glycogenosis Type III

Question 36

Most familial cancers are inherited as _________

Answer 36

autosomal | dominant

Question 37

Alternating pattern of | light and dark bands

Answer 37

Giemsa Stain

Question 38

Any exact multiple of the haploid number (23)

Answer 38

Euploid

Question 39

one homologous chromosome in meiosis or one chromatid in mitosis lags behind and is left out of the cell nucleus. The result is one normal cell and one cell with monosomy.

Answer 39

Anaphase lag -

Question 40

Non-Homologous Chromosomes (n)

Answer 40

HAPLOID

Question 41

Pairs of Homologous Chromosomes (2n)

Answer 41

DIPLOID

Question 42

When a normal egg combines with an aneuploid sperm it will form 2n+1 (an extra chromosome). If the extra chromosome happens in Chromosome 21 then it will be ________

Answer 42

Downs Syndrome.

Question 43

special form of deletion. Produced when the break occurs at both ends of a chromosome ends

Answer 43

Ring chromosome

Question 44

involves two breaks within a single chromosome with reincorporation of the inverted, intervening segment (not much problematic because there is no genetic loss) The genes here will still be present, therefore there is not much of a phenotypic effect.

Answer 44

Inversion

Question 45

when one arm of a chromosome is lost and the remaining arm is duplicated, resulting in a chromosome consisting of two short arms only or of two long arms.

Answer 45

Isochromosome

Question 46

the small chromosome is unfortunately lost. One of the causes of down syndrome- which is not in excess of chromosome but an excess of chromosomal material.

Answer 46

Robertsonian translocation

Question 47

disorders – DiGeorge syndrome and velocardiofacial | syndrome.

Answer 47

CHROMOSOME 22q11.2 DELETION SYNDROME

Question 48

Trisomy 18

Answer 48

(Edwards syndrome)

Question 49

Trisomy 13

Answer 49

Patau syndrome

Question 50

Clinical features can be attributed to (1) aneuploidy and the impact of increased gene dosage by the supernumerary X and (2) presence of hypogonadism

Answer 50

KLINEFELTER SYNDROME (47, XXY)

Question 51

Eunuchoid body habitus with abnormally long legs, small atrophic testes often associated with a small penis, lack od such secondary male characteristics as deep voice, beard, and male distribution of pubic hair. Gynecomastia may be present.

Answer 51

KLINEFELTER SYNDROME (47, XXY)

Question 52

▪ Results from complete or partial monosomy of the X chromosome ▪ Characterized primarily by hypogonadism in phenotypic females ▪ Most common sex chromosome abnormality in females

Answer 52

TURNER SYNDROME (47,X) hermaphrodism and pseudo-hermaphrodism.

Question 53

implies the presence of both ovarian and testicular tissues. – It means to say that they have an ovarian tissue that secretes estrogen and a testicular tissue which secrets testosterone.

Answer 53

True hermaphrodite

Question 54

represents a disagreement between the phenotypic (what is being seen) and gonadal sex (genotype) (i.e., a female pseudohermaphrodite has ovaries but externally male genitalia

Answer 54

Pseudo-hermaphrodite

Question 55

▪ The prototype of diseases in which the mutation is characterized by a long repeating sequence of three nucleotides. ▪ Second most common genetic cause of mental retardation after Down syndrome. ▪ It is caused by a trinucleotide mutation in the familial mental retardation-1 (FMR1) gene

Answer 55

FRAGILE X SUNDROME

Question 56

o Expansions affecting Noncoding regions:

Answer 56

* Fragile X syndrome * Friedrich ataxia * Myotonic dystrophy

Question 57

Expansions affecting Coding regions:

Answer 57

* Spino-bulbar muscular atrophy * Huntington disease * Haw River syndrome * Spino-cerebellar ataxia

Question 58

all cases the deletion affects the paternally derived chromosome 15. Characterized by mental retardation, short stature, hypotonia, profound hyperphagia, obesity, small hands and feet, and hypogonadism.

Answer 58

Prader-Willi syndrome

Question 59

deletion of the same chromosomal region derived from their mothers: characterized by mentally retarded, but in addition they present with ataxic gait, seizures, and inappropriate laughter. Because of their laughter and ataxia, they have been referred to as “happy puppets.”

Answer 59

Angelman syndrome