Pbt Genetic Disorders

Front 1

study of all genes and their interactions?

Back 1

genomics

Front 2

study of all proteins expressed in a cell?

Back 2

proteomics

Front 3

two types of strategies for isolating genes involved in clinical disorders?

Back 3

1. functional
2. positional

Front 4

4 catagories of genetic disorders?

Back 4

1. mendelian
2. cytogenetic
3. single-gene non-mendelian
4. multifactorial

Front 5

what are cytogenetic disorders?

Back 5

numberic or structural changes in chromosomes

Front 6

what type of cells are responsible for hereditary disease?

Back 6

germ cells

Front 7

loss (monosomy) or gain (trisomy) of whole chromosomes is known as?

Back 7

genome mutations

Front 8

abnormal numbers of chromosomes or alterations of chromosomal structure are known as?

Back 8

chromosome mutations

Front 9

a substitiution of one nucleotide for another?

Back 9

point mutation

Front 10

insertion or deletion of 1-2 base pairs?

Back 10

frameshift mutation

Front 11

what is the 6th amino acid (glu) of beta-globin replaced by in sickle cell disease?

Back 11

valine

Front 12

what type of mutation is the one AA switch that occurs in sickle cell disease?

Back 12

point-mutaiton

Front 13

the term applied to the situation where both alleles for a gene are fully expressed?

Back 13

co-dominance

Front 14

what does the term penetrance refer to when describing the expression of a trait caused by a mutant gene?

Back 14

the percent expressing the trait of the total with the mutant gene

Front 15

abnormal trait is present in all with mutant gene, but affected individuals show different clinical features?

Back 15

variable expressivity

Front 16

does loss of function for non-enzymatic vs enzymatic proteints effect heterozygotes equally?

Back 16

no, LOF for enzymatic proteins is usually compensated for by normal allele, but LOF for non-enzymatic proteins are not thus disease ensues

Front 17

of the mendalian disorders, the largest number are passed via what inheritance type?

Back 17

autosomal recessive

Front 18

what stage in life will most with AR pattern diseases be recognized?

Back 18

early in life

Front 19

what are the four mechanisms by which mendalian disorders occur?

Back 19

1. altered structure of function of non-enzymatic proteins
2. defects in membrane receptors and transport systems
3. enzyme defects
4. mutations resulting in unusual reaction to drugs

Front 20

mutation of FBN1 on 15q21 leading to defective fibrillin-1 which further causes abnormal microfilbrils of elastic fibers?

Back 20

Marfan syndrome

Front 21

disorders in which collagen fibers are defective?

Back 21

Ehlers-Danlos syndromes

Front 22

all types of Ehlers-Danlos syndrome are AD except for which two AR types?

Back 22

1. type VI
2. type VIIc

Front 23

defect in NF-1 gene on 17q11 causes what mendelian disorder?

Back 23

neurofibromatoses types 1 and 2

Front 24

Type 1 neurofibromatoses is also called?

Back 24

von Recklinghausen disease

Front 25

what are the 3 main clinical manifestations of NF type 1?

Back 25

1. neurofibromas
2. cafe au lait spots
3. pigmented iris hamartomas (Lich nodules)

Front 26

what do I have?

Back 26

Neurofibromatoses type 1

Front 27

what do I have?

Back 27

NF type 1

Front 28

what do I have?

Back 28

NF type 1

Front 29

what disorder is characterized by a mutation in the genes encoding the merlin protein which regulates Schwann cell proliferation?

Back 29

NF type-2

Front 30

CNS tumors such as acoustic schwannomas can be seen with this genetic disorder?

Back 30

NF type-2

Front 31

mutation in the gene coding the receptor for LDL causes?

Back 31

familial hypercholesterolemia

Front 32

skin and tendinous xanthomas are seen with this Mendalian disorder?

Back 32

familial hypercholesterolemia

Front 33

what are 3 disorders which can be classified as lysosomal storage diseases?

Back 33

1. tay-sachs disease
2. mucopolysaccharidosis I
3. Gaucher's disease

Front 34

caused by a deficiency in hexosaminidase A?

Back 34

Tay Sachs Disease

Front 35

characterized by a cherry red spot in macula by funduscopic exam?

Back 35

Tay Sachs Disease

Front 36

characterized by an accumulation of GM2 gangliosides?

Back 36

Tay Sachs Disease

Front 37

shows up arounf 6 months of age and kills child at 2 or 3 years of age?

Back 37

Tay Sachs Disease

Front 38

Progressive motor and mental deterioration including blindness, dimentia, and muscular flaccidity?

Back 38

Tay Sachs Disease

Front 39

what do I have?

Back 39

Tay Sachs Disease

Front 40

what do I have?

Back 40

Tay Sachs Disease

Front 41

what is the most common lysosomal storage disorder?

Back 41

Gaucher's Disease

Front 42

characterized by a defect in glucocerebrosidase?

Back 42

Gaucher's Disease

Front 43

characterized by an accumulation of glucocerebrosidase in phagocytes?

Back 43

Gaucher's Disease type 1

Front 44

characterized by an accumulation of glucocerebrosidase in cells of the CNS?

Back 44

Gaucher's Disease type 2

Front 45

which type of Gaucher's Disease appears in adulthood?

Back 45

type 1

Front 46

which type of Gaucher's Disease appears in childhood?

Back 46

type 2

Front 47

diagnosed via measured glucocerebrosidase activity in peripheral blood leukocytes or skin fibroblasts?

Back 47

Gaucher's Disease

Front 48

characterized by a deficiency in iduronidase?

Back 48

mucopolysaccharidosis

Front 49

the major type of mucopolysaccharidosis is called what?

Back 49

Hurlers syndrome

Front 50

hepatosplenomegaly by age 2, growth and mental retardation, coarse facial features, and death by age 10 from cardiovascular complications is characteristic of?

Back 50

mucopolysaccharidosis

Front 51

what are the 2 major types of glycogen storage disease?

Back 51

1. hepatic
2. myopathic

Front 52

characterized by deficiency of muscle phosphorylase?

Back 52

glycogen storage disease- McArdle syndrome

Front 53

characterized by deficiency of glucose-6 phosphatase?

Back 53

glycogen storage disease - hepatic types

Front 54

muscle cramps after exercise, weakness, and myoglobin may be excreted as red urine in this disorder?

Back 54

mucopolysaccharidosis - myopathic

Front 55

generalized glycogenosis is called?

Back 55

Pompe Disease

Front 56

deficiency of acid maltase is characteristic of this disorder?

Back 56

Pompe Disease - generalized glycogenosis

Front 57

this disorder results in the storage of glycogen in lysosomes of all organs?

Back 57

Pompe Disease - generalized glycogenosis

Front 58

characterized by death at age 2 from massive cardiomegaly?

Back 58

Pompe Disease - generalized glycogenosis

Front 59

what do I have?

Back 59

gauchers disease

Front 60

what do I have?

Back 60

Pompe Disease - generalized glycogenosis

Front 61

what do I have?

Back 61

alkaptonuria

Front 62

characterized by a deficiency in homogentisic oxidase?

Back 62

alkaptonuria

Front 63

characterized by crippling arthritis by ages 30-40?

Back 63

alkaptonuria

Front 64

the number of chromosomes is not a multiple of 23?

Back 64

aneuploidy

Front 65

loss of one chromosome due to nondisjunction during gametogenesis?

Back 65

monosomy

Front 66

gain of one chromosome due to nondisjunction during gametogenesis?

Back 66

trisomy

Front 67

two or more populations of cells in same individual?

Back 67

mosaicism

Front 68

what is this?

Back 68

translocation

Front 69

what is this?

Back 69

Ring Chromosome

Front 70

what is this?

Back 70

Isochromosome

Front 71

what is this?

Back 71

Inversion

Front 72

what is the most common chromosomal disorder?

Back 72

trisomy 21

Front 73

how does trisomy 21 occur?

Back 73

nondisjunction during meiosis resulting in a gamete with an extra chromosome 21

Front 74

characterized by congenital heart disease (40%), increased risk of acute leukemia (10-20 fold), and early onset Alzheimers disease (by age 40)?

Back 74

Trisomy 21

Front 75

what disorder is characterized by the deletion of band 11.2 on the long arm of chromosome 22?

Back 75

DiGeorge syndrome or Chromosome 22q11.2 Deletion Syndrome

Front 76

thymic hypoplasia and parathyroid hypoplasia make people with this disorder prone to infections and hypocalcemia?

Back 76

DiGeorge syndrome or Chromosome 22q11.2 Deletion Syndrome

Front 77

diagnosed by FISH probes and has a characteristic, large 1.5KB deletion of many unknown genes?

Back 77

DiGeorge syndrome or Chromosome 22q11.2 Deletion Syndrome

Front 78

the name of the inactivated X chromosome in women that is seem as a small dark body at the edge of the nucleus?

Back 78

Barr body

Front 79

disorder characterized by the presence of two or more X and one or more Y leading to reduced spermatogenesis and infertility?

Back 79

Klinefelter Syndrome

Front 80

47 XXY?

Back 80

Klinefelter Syndrome

Front 81

+ Increased length between soles and pubic soles(appearance of elongated body)
+ Small, atrophic testes; small penis,
+ Lack of secondary male characteristics (deep voice, beard, distribution of pubic hair)
+ Gynecomastia
+ Lower IQ, but mental retardation uncommon

Back 81

Klinefelter Syndrome

Front 82

46,XY / 47,XXY

Back 82

Klinefelter Syndrome

Front 83

45,X

Back 83

Turner Syndrome

Front 84

+ Female hypogonadism; phenotypic females
+ May not be detected until puberty delayed: absent menses; no secondary sexual changes

Back 84

Turner Syndrome

Front 85

what do I have?

Back 85

Turner Syndrome

Front 86

What am I if I have the presence of both testicular and ovarian tissue?

Back 86

True hermaphrodite

Front 87

+ Genetic sex: always XX
+ Ovaries and internal genitalia normal
+ External genitalia: virilized (enlarged clitoris)
+ Cause: excessive exposure to androgenic steroids in early gestationk, often due to congenital adrenal hyperplasia (autosomal recessive trait)

Back 87

Female Pseudohermaphrodite

Front 88

+ Possess a Y chromosome
+ Gonads are ftestes
+ Ducts and external genitalia: ambiguous or female (heterogeneous features)
+ Cause: defective virilization of male embryo

Back 88

Male Pseudohermaphrodite

Front 89

most commone cause of Male Pseudohermaphrodites?

Back 89

complete androgen insensitivity at androgen receptor

Front 90

Second most commone cause of mental retardation after trisomy 21?

Back 90

Fragile-X Syndrome

Front 91

Clinical features worsen with progressive generations?

Back 91

fragile-X syndrome

Front 92

caused by long repeating sequences of three nucleotides due to mutation in familial mental retardation gene (FMR-1)?

Back 92

fragile-X syndrome

Front 93

what do I have?

Back 93

Fragile-X Syndrome

Front 94

what encodes enzymes for oxidative phosphorylation?

Back 94

maternal mitochodrial DNA

Front 95

characterized by progressive bilateral loss of central vision which is first noted between 15 and 35 and leads to blindness. Cardiac conduction defects may also be present.
Pedigree:

Back 95

Leber Hereditary Optic Neuropathy

Front 96

characterized by mental retardation, short stature, obesity, small hands and feet, and hypogonadism?

Back 96

Prader Willi Syndrome

Front 97

caused by deletion of q12 band on the paternal chromosome 15?

Back 97

Prader Willi Syndrome

Front 98

characterized by mental retardation, ataxic gait, seizures, and inappropriate laughter (“happy puppets”)?

Back 98

Angelman Syndrome

Front 99

what are two cytogenentic anlysis methods availible for studying chromosomes?

Back 99

1. karyotyping
2. Flourescence in-situ hybridization (FISH)

Front 100

what are two molecular analysis methods for studying DNA?

Back 100

1. PCR
2. Linkage Analysis